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.72333631A>C , CM000668.2:g.72333631A>C | GRCh38 |
| NC_000006.11:g.73043334A>C , CM000668.1:g.73043334A>C | GRCh37 |
| NC_000006.10:g.73100055A>C | NCBI36 |
| NG_016209.1:g.451685A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.3631A>C | ENSP00000513179.1:p.Met1211Leu | |
| ENST00000521978.6:c.4162A>C MANE Select | ENSP00000428417.1:p.Met1388Leu | |
| ENST00000264839.11:c.3709A>C | ENSP00000264839.7:p.Met1237Leu | |
| ENST00000370420.8:c.1306A>C | ENSP00000359448.4:p.Met436Leu | |
| ENST00000401910.7:c.2122A>C | ENSP00000385649.3:p.Met708Leu | |
| ENST00000425662.6:c.1570+41585A>C | ENSP00000411235.2:n.1570+41585A>C | |
| ENST00000453976.6:c.1657A>C | ENSP00000389503.2:p.Met553Leu | |
| ENST00000463023.6:n.254+41585A>C | ||
| ENST00000491071.6:c.3631A>C | ENSP00000430101.1:p.Met1211Leu | |
| ENST00000517433.5:c.2198A>C | ||
| ENST00000517827.5:c.1768+41585A>C | ENSP00000428367.1:n.1768+41585A>C | |
| ENST00000517960.5:c.3511A>C | ENSP00000429959.1:p.Met1171Leu | |
| ENST00000518273.5:c.3403+41585A>C | ENSP00000430408.1:n.3403+41585A>C | |
| ENST00000520567.5:c.3316+41585A>C | ENSP00000430502.1:n.3316+41585A>C | |
| ENST00000521978.5:c.4162A>C | ENSP00000428417.1:p.Met1388Leu | |
| ENST00000522211.5:c.915A>C | ||
| ENST00000522291.5:c.3163+41585A>C | ENSP00000430932.1:n.3163+41585A>C | |
| ENST00000523963.5:c.1741+41585A>C | ENSP00000428328.1:n.1741+41585A>C | |
| NM_001168407.1:c.2122A>C | NP_001161879.1:p.Met708Leu | |
| NM_001168408.1:c.1741+41585A>C | NP_001161880.1:n.1741+41585A>C | |
| NM_001168409.1:c.1570+41585A>C | NP_001161881.1:n.1570+41585A>C | |
| NM_001168410.1:c.1768+41585A>C | NP_001161882.1:n.1768+41585A>C | |
| NM_014989.5:c.4162A>C | NP_055804.2:p.Met1388Leu | |
| XM_005248688.2:c.3631A>C | XP_005248745.1:p.Met1211Leu | |
| XM_011535602.1:c.2335A>C | XP_011533904.1:p.Met779Leu | |
| XM_011535603.1:c.2182A>C | XP_011533905.1:p.Met728Leu | |
| XM_011535604.1:c.2119A>C | XP_011533906.1:p.Met707Leu | |
| XM_011535605.1:c.4108A>C | XP_011533907.1:p.Met1370Leu | |
| XM_011535606.1:c.2080A>C | XP_011533908.1:p.Met694Leu | |
| XM_011535607.1:c.2062A>C | XP_011533909.1:p.Met688Leu | |
| XM_011535608.1:c.1999A>C | XP_011533910.1:p.Met667Leu | |
| XM_011535609.1:c.1930A>C | XP_011533911.1:p.Met644Leu | |
| XM_011535610.1:c.1927A>C | XP_011533912.1:p.Met643Leu | |
| XM_011535611.1:c.1894A>C | XP_011533913.1:p.Met632Leu | |
| XM_011535612.1:c.1810+41585A>C | XP_011533914.1:n.1810+41585A>C | |
| XM_011535613.1:c.1738+41585A>C | XP_011533915.1:n.1738+41585A>C | |
| XM_011535615.1:c.1735+41585A>C | XP_011533917.1:n.1735+41585A>C | |
| XM_011535616.1:c.1720+41585A>C | XP_011533918.1:n.1720+41585A>C | |
| XM_011535617.1:c.1582+41585A>C | XP_011533919.1:n.1582+41585A>C | |
| XM_011535618.1:c.454A>C | XP_011533920.1:p.Met152Leu | |
| NM_001350414.1:c.2083A>C | NP_001337343.1:p.Met695Leu | |
| NM_001350415.1:c.2179A>C | NP_001337344.1:p.Met727Leu | |
| NM_001350416.1:c.2128A>C | NP_001337345.1:p.Met710Leu | |
| NM_001350417.1:c.1813+41585A>C | NP_001337346.1:n.1813+41585A>C | |
| NM_001350418.1:c.2101A>C | NP_001337347.1:p.Met701Leu | |
| NM_001350419.1:c.1585+41585A>C | NP_001337348.1:n.1585+41585A>C | |
| NM_001350420.1:c.2236A>C | NP_001337349.1:p.Met746Leu | |
| NM_001350421.1:c.1981A>C | NP_001337350.1:p.Met661Leu | |
| NM_001350422.1:c.1810+41585A>C | NP_001337351.1:n.1810+41585A>C | |
| NM_001350423.1:c.1870A>C | NP_001337352.1:p.Met624Leu | |
| NM_001350424.1:c.1672+41585A>C | NP_001337353.1:n.1672+41585A>C | |
| NM_001350425.1:c.2080A>C | NP_001337354.1:p.Met694Leu | |
| NM_001350426.1:c.1660+41585A>C | NP_001337355.1:n.1660+41585A>C | |
| NM_001350427.1:c.1738+41585A>C | NP_001337356.1:n.1738+41585A>C | |
| NM_001350428.1:c.1744+41585A>C | NP_001337357.1:n.1744+41585A>C | |
| NM_001350429.1:c.1900A>C | NP_001337358.1:p.Met634Leu | |
| NM_001350430.1:c.1741+41585A>C | NP_001337359.1:n.1741+41585A>C | |
| NM_001350431.1:c.2218A>C | NP_001337360.1:p.Met740Leu | |
| NM_001350432.1:c.1648+41585A>C | NP_001337361.1:n.1648+41585A>C | |
| NM_001350433.1:c.2209A>C | NP_001337362.1:p.Met737Leu | |
| NM_001350434.1:c.1888+41585A>C | NP_001337363.1:n.1888+41585A>C | |
| NM_001350435.1:c.2071A>C | NP_001337364.1:p.Met691Leu | |
| NM_001350436.1:c.2314A>C | NP_001337365.1:p.Met772Leu | |
| NM_001350437.1:c.2065A>C | NP_001337366.1:p.Met689Leu | |
| NM_001350438.1:c.1993+41585A>C | NP_001337367.1:n.1993+41585A>C | |
| NM_001350439.1:c.2053A>C | NP_001337368.1:p.Met685Leu | |
| NM_001350440.1:c.1657+41585A>C | NP_001337369.1:n.1657+41585A>C | |
| NM_001350441.1:c.2050A>C | NP_001337370.1:p.Met684Leu | |
| NM_001350442.1:c.1996+41585A>C | NP_001337371.1:n.1996+41585A>C | |
| NM_001350443.1:c.2023A>C | NP_001337372.1:p.Met675Leu | |
| NM_001350444.1:c.1897A>C | NP_001337373.1:p.Met633Leu | |
| NM_001350445.1:c.1894+41585A>C | NP_001337374.1:n.1894+41585A>C | |
| NM_001350446.1:c.2308A>C | NP_001337375.1:p.Met770Leu | |
| NM_001350447.1:c.1969A>C | NP_001337376.1:p.Met657Leu | |
| NM_001350448.1:c.2125A>C | NP_001337377.1:p.Met709Leu | |
| NM_001350449.1:c.1720+41585A>C | NP_001337378.1:n.1720+41585A>C | |
| NM_001350450.1:c.1669+41585A>C | NP_001337379.1:n.1669+41585A>C | |
| NM_001350454.1:c.2032A>C | NP_001337383.1:p.Met678Leu | |
| NM_001350455.1:c.1588+41585A>C | NP_001337384.1:n.1588+41585A>C | |
| NM_001350456.1:c.2305A>C | NP_001337385.1:p.Met769Leu | |
| NM_001350457.1:c.2062A>C | NP_001337386.1:p.Met688Leu | |
| NM_001350458.1:c.2131A>C | NP_001337387.1:p.Met711Leu | |
| NM_001350459.1:c.1984A>C | NP_001337388.1:p.Met662Leu | |
| NM_001350460.1:c.2002A>C | NP_001337389.1:p.Met668Leu | |
| NM_001350461.1:c.1852A>C | NP_001337390.1:p.Met618Leu | |
| NM_001350462.1:c.2167A>C | NP_001337391.1:p.Met723Leu | |
| NM_001350463.1:c.1807A>C | NP_001337392.1:p.Met603Leu | |
| NM_001350464.1:c.1810A>C | NP_001337393.1:p.Met604Leu | |
| NM_001350465.1:c.1498+41585A>C | NP_001337394.1:n.1498+41585A>C | |
| NM_001350466.1:c.1813A>C | NP_001337395.1:p.Met605Leu | |
| NM_001350467.1:c.1729A>C | NP_001337396.1:p.Met577Leu | |
| NM_001350468.1:c.1654A>C | NP_001337397.1:p.Met552Leu | |
| NM_001350469.1:c.1882A>C | NP_001337398.1:p.Met628Leu | |
| NM_001350470.1:c.1774+41585A>C | NP_001337399.1:n.1774+41585A>C | |
| NM_001350471.1:c.1963A>C | NP_001337400.1:p.Met655Leu | |
| NM_001350472.1:c.1693+41585A>C | NP_001337401.1:n.1693+41585A>C | |
| NM_001350473.1:c.1696+41585A>C | NP_001337402.1:n.1696+41585A>C | |
| NM_001350474.1:c.1855A>C | NP_001337403.1:p.Met619Leu | |
| XM_005248688.4:c.3631A>C | XP_005248745.1:p.Met1211Leu | |
| XM_011535604.3:c.3700A>C | XP_011533906.2:p.Met1234Leu | |
| XM_017010516.2:c.3949A>C | XP_016866005.1:p.Met1317Leu | |
| XM_017010517.2:c.3856A>C | XP_016866006.1:p.Met1286Leu | |
| XM_017010518.2:c.3853A>C | XP_016866007.1:p.Met1285Leu | |
| XM_017010519.2:c.3796A>C | XP_016866008.1:p.Met1266Leu | |
| XM_017010520.2:c.3784A>C | XP_016866009.1:p.Met1262Leu | |
| XM_017010521.2:c.3766A>C | XP_016866010.1:p.Met1256Leu | |
| XM_017010522.2:c.3703A>C | XP_016866011.1:p.Met1235Leu | |
| XM_017010523.2:c.3676A>C | XP_016866012.1:p.Met1226Leu | |
| XM_017010524.2:c.3658A>C | XP_016866013.1:p.Met1220Leu | |
| XM_017010525.2:c.3643A>C | XP_016866014.1:p.Met1215Leu | |
| XM_017010526.2:c.3631A>C | XP_016866015.1:p.Met1211Leu | |
| XM_017010527.2:c.3628A>C | XP_016866016.1:p.Met1210Leu | |
| XM_017010537.2:c.2206A>C | XP_016866026.1:p.Met736Leu | |
| XM_017010544.2:c.2050A>C | XP_016866033.1:p.Met684Leu | |
| XM_017010546.2:c.2026A>C | XP_016866035.1:p.Met676Leu | |
| XM_017010556.2:c.280A>C | XP_016866045.1:p.Met94Leu | |
| XM_017010557.2:c.112A>C | XP_016866046.1:p.Met38Leu | |
| XM_017010558.2:c.112A>C | XP_016866047.1:p.Met38Leu | |
| XM_024446369.1:c.4036A>C | XP_024302137.1:p.Met1346Leu | |
| XM_024446370.1:c.3673A>C | XP_024302138.1:p.Met1225Leu | |
| XM_024446371.1:c.3634A>C | XP_024302139.1:p.Met1212Leu | |
| XM_024446372.1:c.2203A>C | XP_024302140.1:p.Met735Leu | |
| NM_001168407.2:c.2122A>C | NP_001161879.1:p.Met708Leu | |
| NM_001168408.2:c.1741+41585A>C | NP_001161880.1:n.1741+41585A>C | |
| NM_001168409.2:c.1570+41585A>C | NP_001161881.1:n.1570+41585A>C | |
| NM_001168410.2:c.1768+41585A>C | NP_001161882.1:n.1768+41585A>C | |
| NM_001350414.2:c.2083A>C | NP_001337343.1:p.Met695Leu | |
| NM_001350415.2:c.2179A>C | NP_001337344.1:p.Met727Leu | |
| NM_001350416.2:c.2128A>C | NP_001337345.1:p.Met710Leu | |
| NM_001350417.2:c.1813+41585A>C | NP_001337346.1:n.1813+41585A>C | |
| NM_001350418.2:c.2101A>C | NP_001337347.1:p.Met701Leu | |
| NM_001350419.2:c.1585+41585A>C | NP_001337348.1:n.1585+41585A>C | |
| NM_001350420.2:c.2236A>C | NP_001337349.1:p.Met746Leu | |
| NM_001350421.2:c.1981A>C | NP_001337350.1:p.Met661Leu | |
| NM_001350422.2:c.1810+41585A>C | NP_001337351.1:n.1810+41585A>C | |
| NM_001350423.2:c.1870A>C | NP_001337352.1:p.Met624Leu | |
| NM_001350424.2:c.1672+41585A>C | NP_001337353.1:n.1672+41585A>C | |
| NM_001350425.2:c.2080A>C | NP_001337354.1:p.Met694Leu | |
| NM_001350426.2:c.1660+41585A>C | NP_001337355.1:n.1660+41585A>C | |
| NM_001350427.2:c.1738+41585A>C | NP_001337356.1:n.1738+41585A>C | |
| NM_001350428.2:c.1744+41585A>C | NP_001337357.1:n.1744+41585A>C | |
| NM_001350429.2:c.1900A>C | NP_001337358.1:p.Met634Leu | |
| NM_001350430.2:c.1741+41585A>C | NP_001337359.1:n.1741+41585A>C | |
| NM_001350431.2:c.2218A>C | NP_001337360.1:p.Met740Leu | |
| NM_001350432.2:c.1648+41585A>C | NP_001337361.1:n.1648+41585A>C | |
| NM_001350433.2:c.2209A>C | NP_001337362.1:p.Met737Leu | |
| NM_001350434.2:c.1888+41585A>C | NP_001337363.1:n.1888+41585A>C | |
| NM_001350435.2:c.2071A>C | NP_001337364.1:p.Met691Leu | |
| NM_001350436.2:c.2314A>C | NP_001337365.1:p.Met772Leu | |
| NM_001350437.2:c.2065A>C | NP_001337366.1:p.Met689Leu | |
| NM_001350438.2:c.1993+41585A>C | NP_001337367.1:n.1993+41585A>C | |
| NM_001350439.2:c.2053A>C | NP_001337368.1:p.Met685Leu | |
| NM_001350440.2:c.1657+41585A>C | NP_001337369.1:n.1657+41585A>C | |
| NM_001350441.2:c.2050A>C | NP_001337370.1:p.Met684Leu | |
| NM_001350442.2:c.1996+41585A>C | NP_001337371.1:n.1996+41585A>C | |
| NM_001350443.2:c.2023A>C | NP_001337372.1:p.Met675Leu | |
| NM_001350444.2:c.1897A>C | NP_001337373.1:p.Met633Leu | |
| NM_001350445.2:c.1894+41585A>C | NP_001337374.1:n.1894+41585A>C | |
| NM_001350446.2:c.2308A>C | NP_001337375.1:p.Met770Leu | |
| NM_001350447.2:c.1969A>C | NP_001337376.1:p.Met657Leu | |
| NM_001350448.2:c.2125A>C | NP_001337377.1:p.Met709Leu | |
| NM_001350449.2:c.1720+41585A>C | NP_001337378.1:n.1720+41585A>C | |
| NM_001350450.2:c.1669+41585A>C | NP_001337379.1:n.1669+41585A>C | |
| NM_001350454.2:c.2032A>C | NP_001337383.1:p.Met678Leu | |
| NM_001350455.2:c.1588+41585A>C | NP_001337384.1:n.1588+41585A>C | |
| NM_001350456.2:c.2305A>C | NP_001337385.1:p.Met769Leu | |
| NM_001350457.2:c.2062A>C | NP_001337386.1:p.Met688Leu | |
| NM_001350458.2:c.2131A>C | NP_001337387.1:p.Met711Leu | |
| NM_001350459.2:c.1984A>C | NP_001337388.1:p.Met662Leu | |
| NM_001350460.2:c.2002A>C | NP_001337389.1:p.Met668Leu | |
| NM_001350461.2:c.1852A>C | NP_001337390.1:p.Met618Leu | |
| NM_001350462.2:c.2167A>C | NP_001337391.1:p.Met723Leu | |
| NM_001350463.2:c.1807A>C | NP_001337392.1:p.Met603Leu | |
| NM_001350464.2:c.1810A>C | NP_001337393.1:p.Met604Leu | |
| NM_001350465.2:c.1498+41585A>C | NP_001337394.1:n.1498+41585A>C | |
| NM_001350466.2:c.1813A>C | NP_001337395.1:p.Met605Leu | |
| NM_001350467.2:c.1729A>C | NP_001337396.1:p.Met577Leu | |
| NM_001350468.2:c.1654A>C | NP_001337397.1:p.Met552Leu | |
| NM_001350469.2:c.1882A>C | NP_001337398.1:p.Met628Leu | |
| NM_001350470.2:c.1774+41585A>C | NP_001337399.1:n.1774+41585A>C | |
| NM_001350471.2:c.1963A>C | NP_001337400.1:p.Met655Leu | |
| NM_001350472.2:c.1693+41585A>C | NP_001337401.1:n.1693+41585A>C | |
| NM_001350473.2:c.1696+41585A>C | NP_001337402.1:n.1696+41585A>C | |
| NM_001350474.2:c.1855A>C | NP_001337403.1:p.Met619Leu | |
| NM_014989.7:c.4162A>C MANE Select | NP_055804.2:p.Met1388Leu |