UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74180181C>A | CA393128355 | STRA6 | c.1903G>T (p.Gly635Cys) c.1879G>T (p.Gly627Cys) c.1876G>T (p.Gly626Cys) c.2014G>T (p.Gly672Cys) n.1612G>T c.2020G>T (p.Gly674Cys) c.758G>T c.1948G>T (p.Gly650Cys) n.2175G>T c.1714G>T (p.Gly572Cys) c.1951G>T (p.Gly651Cys) | |
| 15 | g.74180181C= | CA2187549737 | STRA6 | c.1903G= (p.Gly635=) c.1879G= (p.Gly627=) c.1876G= (p.Gly626=) c.2014G= (p.Gly672=) n.1612G= c.2020G= (p.Gly674=) c.758G= c.1948G= (p.Gly650=) n.2175G= c.1714G= (p.Gly572=) c.1951G= (p.Gly651=) | |
| 15 | g.74180181C>G | CA393128357 | STRA6 | c.1903G>C (p.Gly635Arg) c.1879G>C (p.Gly627Arg) c.1876G>C (p.Gly626Arg) c.2014G>C (p.Gly672Arg) n.1612G>C c.2020G>C (p.Gly674Arg) c.758G>C c.1948G>C (p.Gly650Arg) n.2175G>C c.1714G>C (p.Gly572Arg) c.1951G>C (p.Gly651Arg) | |
| 15 | g.74180181C>T | CA7654391 | STRA6 | c.1903G>A (p.Gly635Ser) c.1879G>A (p.Gly627Ser) c.1876G>A (p.Gly626Ser) c.2014G>A (p.Gly672Ser) n.1612G>A c.2020G>A (p.Gly674Ser) c.758G>A c.1948G>A (p.Gly650Ser) n.2175G>A c.1714G>A (p.Gly572Ser) c.1951G>A (p.Gly651Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180182G>A | CA7654392 | STRA6 | c.1902C>T (p.Arg634=) c.1878C>T (p.Arg626=) c.1875C>T (p.Arg625=) c.2013C>T (p.Arg671=) n.1611C>T c.2019C>T (p.Arg673=) c.757C>T c.1947C>T (p.Arg649=) n.2174C>T c.1713C>T (p.Arg571=) c.1950C>T (p.Arg650=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74180182G>C | CA491170341 | STRA6 | c.1902C>G (p.Arg634=) c.1878C>G (p.Arg626=) c.1875C>G (p.Arg625=) c.2013C>G (p.Arg671=) n.1611C>G c.2019C>G (p.Arg673=) c.757C>G c.1947C>G (p.Arg649=) n.2174C>G c.1713C>G (p.Arg571=) c.1950C>G (p.Arg650=) | |
| 15 | g.74180182G= | CA2187549738 | STRA6 | c.1902C= (p.Arg634=) c.1878C= (p.Arg626=) c.1875C= (p.Arg625=) c.2013C= (p.Arg671=) n.1611C= c.2019C= (p.Arg673=) c.757C= c.1947C= (p.Arg649=) n.2174C= c.1713C= (p.Arg571=) c.1950C= (p.Arg650=) | |
| 15 | g.74180182G>T | CA7654393 | STRA6 | c.1902C>A (p.Arg634=) c.1878C>A (p.Arg626=) c.1875C>A (p.Arg625=) c.2013C>A (p.Arg671=) n.1611C>A c.2019C>A (p.Arg673=) c.757C>A c.1947C>A (p.Arg649=) n.2174C>A c.1713C>A (p.Arg571=) c.1950C>A (p.Arg650=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180183C>A | CA393128364 | STRA6 | c.1901G>T (p.Arg634Leu) c.1877G>T (p.Arg626Leu) c.1874G>T (p.Arg625Leu) c.2012G>T (p.Arg671Leu) n.1610G>T c.2018G>T (p.Arg673Leu) c.756G>T c.1946G>T (p.Arg649Leu) n.2173G>T c.1712G>T (p.Arg571Leu) c.1949G>T (p.Arg650Leu) | COSMIC COSMIC |
| 15 | g.74180183C= | CA2187549739 | STRA6 | c.1901G= (p.Arg634=) c.1877G= (p.Arg626=) c.1874G= (p.Arg625=) c.2012G= (p.Arg671=) n.1610G= c.2018G= (p.Arg673=) c.756G= c.1946G= (p.Arg649=) n.2173G= c.1712G= (p.Arg571=) c.1949G= (p.Arg650=) | |
| 15 | g.74180183C>G | CA393128366 | STRA6 | c.1901G>C (p.Arg634Pro) c.1877G>C (p.Arg626Pro) c.1874G>C (p.Arg625Pro) c.2012G>C (p.Arg671Pro) n.1610G>C c.2018G>C (p.Arg673Pro) c.756G>C c.1946G>C (p.Arg649Pro) n.2173G>C c.1712G>C (p.Arg571Pro) c.1949G>C (p.Arg650Pro) | |
| 15 | g.74180183C>T | CA7654394 | STRA6 | c.1901G>A (p.Arg634His) c.1877G>A (p.Arg626His) c.1874G>A (p.Arg625His) c.2012G>A (p.Arg671His) n.1610G>A c.2018G>A (p.Arg673His) c.756G>A c.1946G>A (p.Arg649His) n.2173G>A c.1712G>A (p.Arg571His) c.1949G>A (p.Arg650His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180184G>A | CA7654395 | STRA6 | c.1900C>T (p.Arg634Cys) c.1876C>T (p.Arg626Cys) c.1873C>T (p.Arg625Cys) c.2011C>T (p.Arg671Cys) n.1609C>T c.2017C>T (p.Arg673Cys) c.755C>T c.1945C>T (p.Arg649Cys) n.2172C>T c.1711C>T (p.Arg571Cys) c.1948C>T (p.Arg650Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180184G>C | CA393128368 | STRA6 | c.1900C>G (p.Arg634Gly) c.1876C>G (p.Arg626Gly) c.1873C>G (p.Arg625Gly) c.2011C>G (p.Arg671Gly) n.1609C>G c.2017C>G (p.Arg673Gly) c.755C>G c.1945C>G (p.Arg649Gly) n.2172C>G c.1711C>G (p.Arg571Gly) c.1948C>G (p.Arg650Gly) | gnomAD v4 |
| 15 | g.74180184G= | CA2187549740 | STRA6 | c.1900C= (p.Arg634=) c.1876C= (p.Arg626=) c.1873C= (p.Arg625=) c.2011C= (p.Arg671=) n.1609C= c.2017C= (p.Arg673=) c.755C= c.1945C= (p.Arg649=) n.2172C= c.1711C= (p.Arg571=) c.1948C= (p.Arg650=) | |
| 15 | g.74180184G>T | CA393128369 | STRA6 | c.1900C>A (p.Arg634Ser) c.1876C>A (p.Arg626Ser) c.1873C>A (p.Arg625Ser) c.2011C>A (p.Arg671Ser) n.1609C>A c.2017C>A (p.Arg673Ser) c.755C>A c.1945C>A (p.Arg649Ser) n.2172C>A c.1711C>A (p.Arg571Ser) c.1948C>A (p.Arg650Ser) | |
| 15 | g.74180185G>A | CA491170342 | STRA6 | c.1899C>T (p.Ser633=) c.1875C>T (p.Ser625=) c.1872C>T (p.Ser624=) c.2010C>T (p.Ser670=) n.1608C>T c.2016C>T (p.Ser672=) c.754C>T c.1944C>T (p.Ser648=) n.2171C>T c.1710C>T (p.Ser570=) c.1947C>T (p.Ser649=) | |
| 15 | g.74180185G>C | CA393128373 | STRA6 | c.1899C>G (p.Ser633Arg) c.1875C>G (p.Ser625Arg) c.1872C>G (p.Ser624Arg) c.2010C>G (p.Ser670Arg) n.1608C>G c.2016C>G (p.Ser672Arg) c.754C>G c.1944C>G (p.Ser648Arg) n.2171C>G c.1710C>G (p.Ser570Arg) c.1947C>G (p.Ser649Arg) | |
| 15 | g.74180185G>T | CA393128375 | STRA6 | c.1899C>A (p.Ser633Arg) c.1875C>A (p.Ser625Arg) c.1872C>A (p.Ser624Arg) c.2010C>A (p.Ser670Arg) n.1608C>A c.2016C>A (p.Ser672Arg) c.754C>A c.1944C>A (p.Ser648Arg) n.2171C>A c.1710C>A (p.Ser570Arg) c.1947C>A (p.Ser649Arg) | |
| 15 | g.74180186C>A | CA393128378 | STRA6 | c.1898G>T (p.Ser633Ile) c.1874G>T (p.Ser625Ile) c.1871G>T (p.Ser624Ile) c.2009G>T (p.Ser670Ile) n.1607G>T c.2015G>T (p.Ser672Ile) c.753G>T c.1943G>T (p.Ser648Ile) n.2170G>T c.1709G>T (p.Ser570Ile) c.1946G>T (p.Ser649Ile) | |
| 15 | g.74180186C>G | CA393128379 | STRA6 | c.1898G>C (p.Ser633Thr) c.1874G>C (p.Ser625Thr) c.1871G>C (p.Ser624Thr) c.2009G>C (p.Ser670Thr) n.1607G>C c.2015G>C (p.Ser672Thr) c.753G>C c.1943G>C (p.Ser648Thr) n.2170G>C c.1709G>C (p.Ser570Thr) c.1946G>C (p.Ser649Thr) | |
| 15 | g.74180186C>T | CA393128382 | STRA6 | c.1898G>A (p.Ser633Asn) c.1874G>A (p.Ser625Asn) c.1871G>A (p.Ser624Asn) c.2009G>A (p.Ser670Asn) n.1607G>A c.2015G>A (p.Ser672Asn) c.753G>A c.1943G>A (p.Ser648Asn) n.2170G>A c.1709G>A (p.Ser570Asn) c.1946G>A (p.Ser649Asn) | |
| 15 | g.74180187T>A | CA393128384 | STRA6 | c.1897A>T (p.Ser633Cys) c.1873A>T (p.Ser625Cys) c.1870A>T (p.Ser624Cys) c.2008A>T (p.Ser670Cys) n.1606A>T c.2014A>T (p.Ser672Cys) c.752A>T c.1942A>T (p.Ser648Cys) n.2169A>T c.1708A>T (p.Ser570Cys) c.1945A>T (p.Ser649Cys) | |
| 15 | g.74180187T>C | CA393128387 | STRA6 | c.1897A>G (p.Ser633Gly) c.1873A>G (p.Ser625Gly) c.1870A>G (p.Ser624Gly) c.2008A>G (p.Ser670Gly) n.1606A>G c.2014A>G (p.Ser672Gly) c.752A>G c.1942A>G (p.Ser648Gly) n.2169A>G c.1708A>G (p.Ser570Gly) c.1945A>G (p.Ser649Gly) | |
| 15 | g.74180187T>G | CA393128389 | STRA6 | c.1897A>C (p.Ser633Arg) c.1873A>C (p.Ser625Arg) c.1870A>C (p.Ser624Arg) c.2008A>C (p.Ser670Arg) n.1606A>C c.2014A>C (p.Ser672Arg) c.752A>C c.1942A>C (p.Ser648Arg) n.2169A>C c.1708A>C (p.Ser570Arg) c.1945A>C (p.Ser649Arg) | |
| 15 | g.74180192_74180212del | CA2629451123 | STRA6 | c.1877_1897del (p.Lys626_Ala632del) c.1853_1873del (p.Lys618_Ala624del) c.1850_1870del (p.Lys617_Ala623del) c.1988_2008del (p.Lys663_Ala669del) n.1586_1606del c.1994_2014del (p.Lys665_Ala671del) c.732_752del c.1922_1942del (p.Lys641_Ala647del) n.2149_2169del c.1688_1708del (p.Lys563_Ala569del) c.1925_1945del (p.Lys642_Ala648del) | gnomAD v4 |
| 15 | g.74180188G>A | CA7654396 | STRA6 | c.1896C>T (p.Ala632=) c.1872C>T (p.Ala624=) c.1869C>T (p.Ala623=) c.2007C>T (p.Ala669=) n.1605C>T c.2013C>T (p.Ala671=) c.751C>T c.1941C>T (p.Ala647=) n.2168C>T c.1707C>T (p.Ala569=) c.1944C>T (p.Ala648=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180188G>C | CA491170343 | STRA6 | c.1896C>G (p.Ala632=) c.1872C>G (p.Ala624=) c.1869C>G (p.Ala623=) c.2007C>G (p.Ala669=) n.1605C>G c.2013C>G (p.Ala671=) c.751C>G c.1941C>G (p.Ala647=) n.2168C>G c.1707C>G (p.Ala569=) c.1944C>G (p.Ala648=) | |
| 15 | g.74180188G= | CA2187549741 | STRA6 | c.1896C= (p.Ala632=) c.1872C= (p.Ala624=) c.1869C= (p.Ala623=) c.2007C= (p.Ala669=) n.1605C= c.2013C= (p.Ala671=) c.751C= c.1941C= (p.Ala647=) n.2168C= c.1707C= (p.Ala569=) c.1944C= (p.Ala648=) | |
| 15 | g.74180188G>T | CA491170344 | STRA6 | c.1896C>A (p.Ala632=) c.1872C>A (p.Ala624=) c.1869C>A (p.Ala623=) c.2007C>A (p.Ala669=) n.1605C>A c.2013C>A (p.Ala671=) c.751C>A c.1941C>A (p.Ala647=) n.2168C>A c.1707C>A (p.Ala569=) c.1944C>A (p.Ala648=) | |
| 15 | g.74180189G>A | CA393128393 | STRA6 | c.1895C>T (p.Ala632Val) c.1871C>T (p.Ala624Val) c.1868C>T (p.Ala623Val) c.2006C>T (p.Ala669Val) n.1604C>T c.2012C>T (p.Ala671Val) c.750C>T c.1940C>T (p.Ala647Val) n.2167C>T c.1706C>T (p.Ala569Val) c.1943C>T (p.Ala648Val) | gnomAD v4 |
| 15 | g.74180189G>C | CA393128395 | STRA6 | c.1895C>G (p.Ala632Gly) c.1871C>G (p.Ala624Gly) c.1868C>G (p.Ala623Gly) c.2006C>G (p.Ala669Gly) n.1604C>G c.2012C>G (p.Ala671Gly) c.750C>G c.1940C>G (p.Ala647Gly) n.2167C>G c.1706C>G (p.Ala569Gly) c.1943C>G (p.Ala648Gly) | |
| 15 | g.74180189G>T | CA393128397 | STRA6 | c.1895C>A (p.Ala632Asp) c.1871C>A (p.Ala624Asp) c.1868C>A (p.Ala623Asp) c.2006C>A (p.Ala669Asp) n.1604C>A c.2012C>A (p.Ala671Asp) c.750C>A c.1940C>A (p.Ala647Asp) n.2167C>A c.1706C>A (p.Ala569Asp) c.1943C>A (p.Ala648Asp) | |
| 15 | g.74180190C>A | CA393128399 | STRA6 | c.1894G>T (p.Ala632Ser) c.1870G>T (p.Ala624Ser) c.1867G>T (p.Ala623Ser) c.2005G>T (p.Ala669Ser) n.1603G>T c.2011G>T (p.Ala671Ser) c.749G>T c.1939G>T (p.Ala647Ser) n.2166G>T c.1705G>T (p.Ala569Ser) c.1942G>T (p.Ala648Ser) | |
| 15 | g.74180190C= | CA2187549742 | STRA6 | c.1894G= (p.Ala632=) c.1870G= (p.Ala624=) c.1867G= (p.Ala623=) c.2005G= (p.Ala669=) n.1603G= c.2011G= (p.Ala671=) c.749G= c.1939G= (p.Ala647=) n.2166G= c.1705G= (p.Ala569=) c.1942G= (p.Ala648=) | |
| 15 | g.74180190C>G | CA393128405 | STRA6 | c.1894G>C (p.Ala632Pro) c.1870G>C (p.Ala624Pro) c.1867G>C (p.Ala623Pro) c.2005G>C (p.Ala669Pro) n.1603G>C c.2011G>C (p.Ala671Pro) c.749G>C c.1939G>C (p.Ala647Pro) n.2166G>C c.1705G>C (p.Ala569Pro) c.1942G>C (p.Ala648Pro) | dbSNP |
| 15 | g.74180190C>T | CA7654397 | STRA6 | c.1894G>A (p.Ala632Thr) c.1870G>A (p.Ala624Thr) c.1867G>A (p.Ala623Thr) c.2005G>A (p.Ala669Thr) n.1603G>A c.2011G>A (p.Ala671Thr) c.749G>A c.1939G>A (p.Ala647Thr) n.2166G>A c.1705G>A (p.Ala569Thr) c.1942G>A (p.Ala648Thr) | dbSNP ExAC gnomAD v4 |
| 15 | g.74180193del | CA491170345 | STRA6 | c.1894del (p.Ala632ProfsTer?) c.1870del (p.Ala624ProfsTer?) c.1867del (p.Ala623ProfsTer?) c.2005del (p.Ala669ProfsTer?) n.1603del c.2011del (p.Ala671ProfsTer?) c.749del c.1939del (p.Ala647ProfsTer?) n.2166del c.1705del (p.Ala569ProfsTer?) c.1942del (p.Ala648ProfsTer?) | COSMIC |
| 15 | g.74180191C>A | CA491170346 | STRA6 | c.1893G>T (p.Gly631=) c.1869G>T (p.Gly623=) c.1866G>T (p.Gly622=) c.2004G>T (p.Gly668=) n.1602G>T c.2010G>T (p.Gly670=) c.748G>T c.1938G>T (p.Gly646=) n.2165G>T c.1704G>T (p.Gly568=) c.1941G>T (p.Gly647=) | |
| 15 | g.74180191C= | CA2187549743 | STRA6 | c.1893G= (p.Gly631=) c.1869G= (p.Gly623=) c.1866G= (p.Gly622=) c.2004G= (p.Gly668=) n.1602G= c.2010G= (p.Gly670=) c.748G= c.1938G= (p.Gly646=) n.2165G= c.1704G= (p.Gly568=) c.1941G= (p.Gly647=) | |
| 15 | g.74180191C>G | CA491170347 | STRA6 | c.1893G>C (p.Gly631=) c.1869G>C (p.Gly623=) c.1866G>C (p.Gly622=) c.2004G>C (p.Gly668=) n.1602G>C c.2010G>C (p.Gly670=) c.748G>C c.1938G>C (p.Gly646=) n.2165G>C c.1704G>C (p.Gly568=) c.1941G>C (p.Gly647=) | dbSNP gnomAD v4 |
| 15 | g.74180191C>T | CA491170348 | STRA6 | c.1893G>A (p.Gly631=) c.1869G>A (p.Gly623=) c.1866G>A (p.Gly622=) c.2004G>A (p.Gly668=) n.1602G>A c.2010G>A (p.Gly670=) c.748G>A c.1938G>A (p.Gly646=) n.2165G>A c.1704G>A (p.Gly568=) c.1941G>A (p.Gly647=) | |
| 15 | g.74180192C>A | CA393128408 | STRA6 | c.1892G>T (p.Gly631Val) c.1868G>T (p.Gly623Val) c.1865G>T (p.Gly622Val) c.2003G>T (p.Gly668Val) n.1601G>T c.2009G>T (p.Gly670Val) c.747G>T c.1937G>T (p.Gly646Val) n.2164G>T c.1703G>T (p.Gly568Val) c.1940G>T (p.Gly647Val) | |
| 15 | g.74180192C>G | CA393128410 | STRA6 | c.1892G>C (p.Gly631Ala) c.1868G>C (p.Gly623Ala) c.1865G>C (p.Gly622Ala) c.2003G>C (p.Gly668Ala) n.1601G>C c.2009G>C (p.Gly670Ala) c.747G>C c.1937G>C (p.Gly646Ala) n.2164G>C c.1703G>C (p.Gly568Ala) c.1940G>C (p.Gly647Ala) | |
| 15 | g.74180192C>T | CA393128412 | STRA6 | c.1892G>A (p.Gly631Glu) c.1868G>A (p.Gly623Glu) c.1865G>A (p.Gly622Glu) c.2003G>A (p.Gly668Glu) n.1601G>A c.2009G>A (p.Gly670Glu) c.747G>A c.1937G>A (p.Gly646Glu) n.2164G>A c.1703G>A (p.Gly568Glu) c.1940G>A (p.Gly647Glu) | |
| 15 | g.74180193C>A | CA393128415 | STRA6 | c.1891G>T (p.Gly631Trp) c.1867G>T (p.Gly623Trp) c.1864G>T (p.Gly622Trp) c.2002G>T (p.Gly668Trp) n.1600G>T c.2008G>T (p.Gly670Trp) c.746G>T c.1936G>T (p.Gly646Trp) n.2163G>T c.1702G>T (p.Gly568Trp) c.1939G>T (p.Gly647Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74180193C= | CA2187549744 | STRA6 | c.1891G= (p.Gly631=) c.1867G= (p.Gly623=) c.1864G= (p.Gly622=) c.2002G= (p.Gly668=) n.1600G= c.2008G= (p.Gly670=) c.746G= c.1936G= (p.Gly646=) n.2163G= c.1702G= (p.Gly568=) c.1939G= (p.Gly647=) | |
| 15 | g.74180193C>G | CA393128417 | STRA6 | c.1891G>C (p.Gly631Arg) c.1867G>C (p.Gly623Arg) c.1864G>C (p.Gly622Arg) c.2002G>C (p.Gly668Arg) n.1600G>C c.2008G>C (p.Gly670Arg) c.746G>C c.1936G>C (p.Gly646Arg) n.2163G>C c.1702G>C (p.Gly568Arg) c.1939G>C (p.Gly647Arg) | |
| 15 | g.74180193C>T | CA7654398 | STRA6 | c.1891G>A (p.Gly631Arg) c.1867G>A (p.Gly623Arg) c.1864G>A (p.Gly622Arg) c.2002G>A (p.Gly668Arg) n.1600G>A c.2008G>A (p.Gly670Arg) c.746G>A c.1936G>A (p.Gly646Arg) n.2163G>A c.1702G>A (p.Gly568Arg) c.1939G>A (p.Gly647Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180194G>A | CA7654399 | STRA6 | c.1890C>T (p.Pro630=) c.1866C>T (p.Pro622=) c.1863C>T (p.Pro621=) c.2001C>T (p.Pro667=) n.1599C>T c.2007C>T (p.Pro669=) c.745C>T c.1935C>T (p.Pro645=) n.2162C>T c.1701C>T (p.Pro567=) c.1938C>T (p.Pro646=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |