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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.72333640T>G , CM000668.2:g.72333640T>G | GRCh38 |
| NC_000006.11:g.73043343T>G , CM000668.1:g.73043343T>G | GRCh37 |
| NC_000006.10:g.73100064T>G | NCBI36 |
| NG_016209.1:g.451694T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.3640T>G | ENSP00000513179.1:p.Ser1214Ala | |
| ENST00000521978.6:c.4171T>G MANE Select | ENSP00000428417.1:p.Ser1391Ala | |
| ENST00000264839.11:c.3718T>G | ENSP00000264839.7:p.Ser1240Ala | |
| ENST00000370420.8:c.1315T>G | ENSP00000359448.4:p.Ser439Ala | |
| ENST00000401910.7:c.2131T>G | ENSP00000385649.3:p.Ser711Ala | |
| ENST00000425662.6:c.1570+41594T>G | ENSP00000411235.2:n.1570+41594T>G | |
| ENST00000453976.6:c.1666T>G | ENSP00000389503.2:p.Ser556Ala | |
| ENST00000463023.6:n.254+41594T>G | ||
| ENST00000491071.6:c.3640T>G | ENSP00000430101.1:p.Ser1214Ala | |
| ENST00000517433.5:c.2207T>G | ||
| ENST00000517827.5:c.1768+41594T>G | ENSP00000428367.1:n.1768+41594T>G | |
| ENST00000517960.5:c.3520T>G | ENSP00000429959.1:p.Ser1174Ala | |
| ENST00000518273.5:c.3403+41594T>G | ENSP00000430408.1:n.3403+41594T>G | |
| ENST00000520567.5:c.3316+41594T>G | ENSP00000430502.1:n.3316+41594T>G | |
| ENST00000521978.5:c.4171T>G | ENSP00000428417.1:p.Ser1391Ala | |
| ENST00000522211.5:c.924T>G | ||
| ENST00000522291.5:c.3163+41594T>G | ENSP00000430932.1:n.3163+41594T>G | |
| ENST00000523963.5:c.1741+41594T>G | ENSP00000428328.1:n.1741+41594T>G | |
| NM_001168407.1:c.2131T>G | NP_001161879.1:p.Ser711Ala | |
| NM_001168408.1:c.1741+41594T>G | NP_001161880.1:n.1741+41594T>G | |
| NM_001168409.1:c.1570+41594T>G | NP_001161881.1:n.1570+41594T>G | |
| NM_001168410.1:c.1768+41594T>G | NP_001161882.1:n.1768+41594T>G | |
| NM_014989.5:c.4171T>G | NP_055804.2:p.Ser1391Ala | |
| XM_005248688.2:c.3640T>G | XP_005248745.1:p.Ser1214Ala | |
| XM_011535602.1:c.2344T>G | XP_011533904.1:p.Ser782Ala | |
| XM_011535603.1:c.2191T>G | XP_011533905.1:p.Ser731Ala | |
| XM_011535604.1:c.2128T>G | XP_011533906.1:p.Ser710Ala | |
| XM_011535605.1:c.4117T>G | XP_011533907.1:p.Ser1373Ala | |
| XM_011535606.1:c.2089T>G | XP_011533908.1:p.Ser697Ala | |
| XM_011535607.1:c.2071T>G | XP_011533909.1:p.Ser691Ala | |
| XM_011535608.1:c.2008T>G | XP_011533910.1:p.Ser670Ala | |
| XM_011535609.1:c.1939T>G | XP_011533911.1:p.Ser647Ala | |
| XM_011535610.1:c.1936T>G | XP_011533912.1:p.Ser646Ala | |
| XM_011535611.1:c.1903T>G | XP_011533913.1:p.Ser635Ala | |
| XM_011535612.1:c.1810+41594T>G | XP_011533914.1:n.1810+41594T>G | |
| XM_011535613.1:c.1738+41594T>G | XP_011533915.1:n.1738+41594T>G | |
| XM_011535615.1:c.1735+41594T>G | XP_011533917.1:n.1735+41594T>G | |
| XM_011535616.1:c.1720+41594T>G | XP_011533918.1:n.1720+41594T>G | |
| XM_011535617.1:c.1582+41594T>G | XP_011533919.1:n.1582+41594T>G | |
| XM_011535618.1:c.463T>G | XP_011533920.1:p.Ser155Ala | |
| NM_001350414.1:c.2092T>G | NP_001337343.1:p.Ser698Ala | |
| NM_001350415.1:c.2188T>G | NP_001337344.1:p.Ser730Ala | |
| NM_001350416.1:c.2137T>G | NP_001337345.1:p.Ser713Ala | |
| NM_001350417.1:c.1813+41594T>G | NP_001337346.1:n.1813+41594T>G | |
| NM_001350418.1:c.2110T>G | NP_001337347.1:p.Ser704Ala | |
| NM_001350419.1:c.1585+41594T>G | NP_001337348.1:n.1585+41594T>G | |
| NM_001350420.1:c.2245T>G | NP_001337349.1:p.Ser749Ala | |
| NM_001350421.1:c.1990T>G | NP_001337350.1:p.Ser664Ala | |
| NM_001350422.1:c.1810+41594T>G | NP_001337351.1:n.1810+41594T>G | |
| NM_001350423.1:c.1879T>G | NP_001337352.1:p.Ser627Ala | |
| NM_001350424.1:c.1672+41594T>G | NP_001337353.1:n.1672+41594T>G | |
| NM_001350425.1:c.2089T>G | NP_001337354.1:p.Ser697Ala | |
| NM_001350426.1:c.1660+41594T>G | NP_001337355.1:n.1660+41594T>G | |
| NM_001350427.1:c.1738+41594T>G | NP_001337356.1:n.1738+41594T>G | |
| NM_001350428.1:c.1744+41594T>G | NP_001337357.1:n.1744+41594T>G | |
| NM_001350429.1:c.1909T>G | NP_001337358.1:p.Ser637Ala | |
| NM_001350430.1:c.1741+41594T>G | NP_001337359.1:n.1741+41594T>G | |
| NM_001350431.1:c.2227T>G | NP_001337360.1:p.Ser743Ala | |
| NM_001350432.1:c.1648+41594T>G | NP_001337361.1:n.1648+41594T>G | |
| NM_001350433.1:c.2218T>G | NP_001337362.1:p.Ser740Ala | |
| NM_001350434.1:c.1888+41594T>G | NP_001337363.1:n.1888+41594T>G | |
| NM_001350435.1:c.2080T>G | NP_001337364.1:p.Ser694Ala | |
| NM_001350436.1:c.2323T>G | NP_001337365.1:p.Ser775Ala | |
| NM_001350437.1:c.2074T>G | NP_001337366.1:p.Ser692Ala | |
| NM_001350438.1:c.1993+41594T>G | NP_001337367.1:n.1993+41594T>G | |
| NM_001350439.1:c.2062T>G | NP_001337368.1:p.Ser688Ala | |
| NM_001350440.1:c.1657+41594T>G | NP_001337369.1:n.1657+41594T>G | |
| NM_001350441.1:c.2059T>G | NP_001337370.1:p.Ser687Ala | |
| NM_001350442.1:c.1996+41594T>G | NP_001337371.1:n.1996+41594T>G | |
| NM_001350443.1:c.2032T>G | NP_001337372.1:p.Ser678Ala | |
| NM_001350444.1:c.1906T>G | NP_001337373.1:p.Ser636Ala | |
| NM_001350445.1:c.1894+41594T>G | NP_001337374.1:n.1894+41594T>G | |
| NM_001350446.1:c.2317T>G | NP_001337375.1:p.Ser773Ala | |
| NM_001350447.1:c.1978T>G | NP_001337376.1:p.Ser660Ala | |
| NM_001350448.1:c.2134T>G | NP_001337377.1:p.Ser712Ala | |
| NM_001350449.1:c.1720+41594T>G | NP_001337378.1:n.1720+41594T>G | |
| NM_001350450.1:c.1669+41594T>G | NP_001337379.1:n.1669+41594T>G | |
| NM_001350454.1:c.2041T>G | NP_001337383.1:p.Ser681Ala | |
| NM_001350455.1:c.1588+41594T>G | NP_001337384.1:n.1588+41594T>G | |
| NM_001350456.1:c.2314T>G | NP_001337385.1:p.Ser772Ala | |
| NM_001350457.1:c.2071T>G | NP_001337386.1:p.Ser691Ala | |
| NM_001350458.1:c.2140T>G | NP_001337387.1:p.Ser714Ala | |
| NM_001350459.1:c.1993T>G | NP_001337388.1:p.Ser665Ala | |
| NM_001350460.1:c.2011T>G | NP_001337389.1:p.Ser671Ala | |
| NM_001350461.1:c.1861T>G | NP_001337390.1:p.Ser621Ala | |
| NM_001350462.1:c.2176T>G | NP_001337391.1:p.Ser726Ala | |
| NM_001350463.1:c.1816T>G | NP_001337392.1:p.Ser606Ala | |
| NM_001350464.1:c.1819T>G | NP_001337393.1:p.Ser607Ala | |
| NM_001350465.1:c.1498+41594T>G | NP_001337394.1:n.1498+41594T>G | |
| NM_001350466.1:c.1822T>G | NP_001337395.1:p.Ser608Ala | |
| NM_001350467.1:c.1738T>G | NP_001337396.1:p.Ser580Ala | |
| NM_001350468.1:c.1663T>G | NP_001337397.1:p.Ser555Ala | |
| NM_001350469.1:c.1891T>G | NP_001337398.1:p.Ser631Ala | |
| NM_001350470.1:c.1774+41594T>G | NP_001337399.1:n.1774+41594T>G | |
| NM_001350471.1:c.1972T>G | NP_001337400.1:p.Ser658Ala | |
| NM_001350472.1:c.1693+41594T>G | NP_001337401.1:n.1693+41594T>G | |
| NM_001350473.1:c.1696+41594T>G | NP_001337402.1:n.1696+41594T>G | |
| NM_001350474.1:c.1864T>G | NP_001337403.1:p.Ser622Ala | |
| XM_005248688.4:c.3640T>G | XP_005248745.1:p.Ser1214Ala | |
| XM_011535604.3:c.3709T>G | XP_011533906.2:p.Ser1237Ala | |
| XM_017010516.2:c.3958T>G | XP_016866005.1:p.Ser1320Ala | |
| XM_017010517.2:c.3865T>G | XP_016866006.1:p.Ser1289Ala | |
| XM_017010518.2:c.3862T>G | XP_016866007.1:p.Ser1288Ala | |
| XM_017010519.2:c.3805T>G | XP_016866008.1:p.Ser1269Ala | |
| XM_017010520.2:c.3793T>G | XP_016866009.1:p.Ser1265Ala | |
| XM_017010521.2:c.3775T>G | XP_016866010.1:p.Ser1259Ala | |
| XM_017010522.2:c.3712T>G | XP_016866011.1:p.Ser1238Ala | |
| XM_017010523.2:c.3685T>G | XP_016866012.1:p.Ser1229Ala | |
| XM_017010524.2:c.3667T>G | XP_016866013.1:p.Ser1223Ala | |
| XM_017010525.2:c.3652T>G | XP_016866014.1:p.Ser1218Ala | |
| XM_017010526.2:c.3640T>G | XP_016866015.1:p.Ser1214Ala | |
| XM_017010527.2:c.3637T>G | XP_016866016.1:p.Ser1213Ala | |
| XM_017010537.2:c.2215T>G | XP_016866026.1:p.Ser739Ala | |
| XM_017010544.2:c.2059T>G | XP_016866033.1:p.Ser687Ala | |
| XM_017010546.2:c.2035T>G | XP_016866035.1:p.Ser679Ala | |
| XM_017010556.2:c.289T>G | XP_016866045.1:p.Ser97Ala | |
| XM_017010557.2:c.121T>G | XP_016866046.1:p.Ser41Ala | |
| XM_017010558.2:c.121T>G | XP_016866047.1:p.Ser41Ala | |
| XM_024446369.1:c.4045T>G | XP_024302137.1:p.Ser1349Ala | |
| XM_024446370.1:c.3682T>G | XP_024302138.1:p.Ser1228Ala | |
| XM_024446371.1:c.3643T>G | XP_024302139.1:p.Ser1215Ala | |
| XM_024446372.1:c.2212T>G | XP_024302140.1:p.Ser738Ala | |
| NM_001168407.2:c.2131T>G | NP_001161879.1:p.Ser711Ala | |
| NM_001168408.2:c.1741+41594T>G | NP_001161880.1:n.1741+41594T>G | |
| NM_001168409.2:c.1570+41594T>G | NP_001161881.1:n.1570+41594T>G | |
| NM_001168410.2:c.1768+41594T>G | NP_001161882.1:n.1768+41594T>G | |
| NM_001350414.2:c.2092T>G | NP_001337343.1:p.Ser698Ala | |
| NM_001350415.2:c.2188T>G | NP_001337344.1:p.Ser730Ala | |
| NM_001350416.2:c.2137T>G | NP_001337345.1:p.Ser713Ala | |
| NM_001350417.2:c.1813+41594T>G | NP_001337346.1:n.1813+41594T>G | |
| NM_001350418.2:c.2110T>G | NP_001337347.1:p.Ser704Ala | |
| NM_001350419.2:c.1585+41594T>G | NP_001337348.1:n.1585+41594T>G | |
| NM_001350420.2:c.2245T>G | NP_001337349.1:p.Ser749Ala | |
| NM_001350421.2:c.1990T>G | NP_001337350.1:p.Ser664Ala | |
| NM_001350422.2:c.1810+41594T>G | NP_001337351.1:n.1810+41594T>G | |
| NM_001350423.2:c.1879T>G | NP_001337352.1:p.Ser627Ala | |
| NM_001350424.2:c.1672+41594T>G | NP_001337353.1:n.1672+41594T>G | |
| NM_001350425.2:c.2089T>G | NP_001337354.1:p.Ser697Ala | |
| NM_001350426.2:c.1660+41594T>G | NP_001337355.1:n.1660+41594T>G | |
| NM_001350427.2:c.1738+41594T>G | NP_001337356.1:n.1738+41594T>G | |
| NM_001350428.2:c.1744+41594T>G | NP_001337357.1:n.1744+41594T>G | |
| NM_001350429.2:c.1909T>G | NP_001337358.1:p.Ser637Ala | |
| NM_001350430.2:c.1741+41594T>G | NP_001337359.1:n.1741+41594T>G | |
| NM_001350431.2:c.2227T>G | NP_001337360.1:p.Ser743Ala | |
| NM_001350432.2:c.1648+41594T>G | NP_001337361.1:n.1648+41594T>G | |
| NM_001350433.2:c.2218T>G | NP_001337362.1:p.Ser740Ala | |
| NM_001350434.2:c.1888+41594T>G | NP_001337363.1:n.1888+41594T>G | |
| NM_001350435.2:c.2080T>G | NP_001337364.1:p.Ser694Ala | |
| NM_001350436.2:c.2323T>G | NP_001337365.1:p.Ser775Ala | |
| NM_001350437.2:c.2074T>G | NP_001337366.1:p.Ser692Ala | |
| NM_001350438.2:c.1993+41594T>G | NP_001337367.1:n.1993+41594T>G | |
| NM_001350439.2:c.2062T>G | NP_001337368.1:p.Ser688Ala | |
| NM_001350440.2:c.1657+41594T>G | NP_001337369.1:n.1657+41594T>G | |
| NM_001350441.2:c.2059T>G | NP_001337370.1:p.Ser687Ala | |
| NM_001350442.2:c.1996+41594T>G | NP_001337371.1:n.1996+41594T>G | |
| NM_001350443.2:c.2032T>G | NP_001337372.1:p.Ser678Ala | |
| NM_001350444.2:c.1906T>G | NP_001337373.1:p.Ser636Ala | |
| NM_001350445.2:c.1894+41594T>G | NP_001337374.1:n.1894+41594T>G | |
| NM_001350446.2:c.2317T>G | NP_001337375.1:p.Ser773Ala | |
| NM_001350447.2:c.1978T>G | NP_001337376.1:p.Ser660Ala | |
| NM_001350448.2:c.2134T>G | NP_001337377.1:p.Ser712Ala | |
| NM_001350449.2:c.1720+41594T>G | NP_001337378.1:n.1720+41594T>G | |
| NM_001350450.2:c.1669+41594T>G | NP_001337379.1:n.1669+41594T>G | |
| NM_001350454.2:c.2041T>G | NP_001337383.1:p.Ser681Ala | |
| NM_001350455.2:c.1588+41594T>G | NP_001337384.1:n.1588+41594T>G | |
| NM_001350456.2:c.2314T>G | NP_001337385.1:p.Ser772Ala | |
| NM_001350457.2:c.2071T>G | NP_001337386.1:p.Ser691Ala | |
| NM_001350458.2:c.2140T>G | NP_001337387.1:p.Ser714Ala | |
| NM_001350459.2:c.1993T>G | NP_001337388.1:p.Ser665Ala | |
| NM_001350460.2:c.2011T>G | NP_001337389.1:p.Ser671Ala | |
| NM_001350461.2:c.1861T>G | NP_001337390.1:p.Ser621Ala | |
| NM_001350462.2:c.2176T>G | NP_001337391.1:p.Ser726Ala | |
| NM_001350463.2:c.1816T>G | NP_001337392.1:p.Ser606Ala | |
| NM_001350464.2:c.1819T>G | NP_001337393.1:p.Ser607Ala | |
| NM_001350465.2:c.1498+41594T>G | NP_001337394.1:n.1498+41594T>G | |
| NM_001350466.2:c.1822T>G | NP_001337395.1:p.Ser608Ala | |
| NM_001350467.2:c.1738T>G | NP_001337396.1:p.Ser580Ala | |
| NM_001350468.2:c.1663T>G | NP_001337397.1:p.Ser555Ala | |
| NM_001350469.2:c.1891T>G | NP_001337398.1:p.Ser631Ala | |
| NM_001350470.2:c.1774+41594T>G | NP_001337399.1:n.1774+41594T>G | |
| NM_001350471.2:c.1972T>G | NP_001337400.1:p.Ser658Ala | |
| NM_001350472.2:c.1693+41594T>G | NP_001337401.1:n.1693+41594T>G | |
| NM_001350473.2:c.1696+41594T>G | NP_001337402.1:n.1696+41594T>G | |
| NM_001350474.2:c.1864T>G | NP_001337403.1:p.Ser622Ala | |
| NM_014989.7:c.4171T>G MANE Select | NP_055804.2:p.Ser1391Ala |