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.72333632T>A , CM000668.2:g.72333632T>A | GRCh38 |
| NC_000006.11:g.73043335T>A , CM000668.1:g.73043335T>A | GRCh37 |
| NC_000006.10:g.73100056T>A | NCBI36 |
| NG_016209.1:g.451686T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.3632T>A | ENSP00000513179.1:p.Met1211Lys | |
| ENST00000521978.6:c.4163T>A MANE Select | ENSP00000428417.1:p.Met1388Lys | |
| ENST00000264839.11:c.3710T>A | ENSP00000264839.7:p.Met1237Lys | |
| ENST00000370420.8:c.1307T>A | ENSP00000359448.4:p.Met436Lys | |
| ENST00000401910.7:c.2123T>A | ENSP00000385649.3:p.Met708Lys | |
| ENST00000425662.6:c.1570+41586T>A | ENSP00000411235.2:n.1570+41586T>A | |
| ENST00000453976.6:c.1658T>A | ENSP00000389503.2:p.Met553Lys | |
| ENST00000463023.6:n.254+41586T>A | ||
| ENST00000491071.6:c.3632T>A | ENSP00000430101.1:p.Met1211Lys | |
| ENST00000517433.5:c.2199T>A | ||
| ENST00000517827.5:c.1768+41586T>A | ENSP00000428367.1:n.1768+41586T>A | |
| ENST00000517960.5:c.3512T>A | ENSP00000429959.1:p.Met1171Lys | |
| ENST00000518273.5:c.3403+41586T>A | ENSP00000430408.1:n.3403+41586T>A | |
| ENST00000520567.5:c.3316+41586T>A | ENSP00000430502.1:n.3316+41586T>A | |
| ENST00000521978.5:c.4163T>A | ENSP00000428417.1:p.Met1388Lys | |
| ENST00000522211.5:c.916T>A | ||
| ENST00000522291.5:c.3163+41586T>A | ENSP00000430932.1:n.3163+41586T>A | |
| ENST00000523963.5:c.1741+41586T>A | ENSP00000428328.1:n.1741+41586T>A | |
| NM_001168407.1:c.2123T>A | NP_001161879.1:p.Met708Lys | |
| NM_001168408.1:c.1741+41586T>A | NP_001161880.1:n.1741+41586T>A | |
| NM_001168409.1:c.1570+41586T>A | NP_001161881.1:n.1570+41586T>A | |
| NM_001168410.1:c.1768+41586T>A | NP_001161882.1:n.1768+41586T>A | |
| NM_014989.5:c.4163T>A | NP_055804.2:p.Met1388Lys | |
| XM_005248688.2:c.3632T>A | XP_005248745.1:p.Met1211Lys | |
| XM_011535602.1:c.2336T>A | XP_011533904.1:p.Met779Lys | |
| XM_011535603.1:c.2183T>A | XP_011533905.1:p.Met728Lys | |
| XM_011535604.1:c.2120T>A | XP_011533906.1:p.Met707Lys | |
| XM_011535605.1:c.4109T>A | XP_011533907.1:p.Met1370Lys | |
| XM_011535606.1:c.2081T>A | XP_011533908.1:p.Met694Lys | |
| XM_011535607.1:c.2063T>A | XP_011533909.1:p.Met688Lys | |
| XM_011535608.1:c.2000T>A | XP_011533910.1:p.Met667Lys | |
| XM_011535609.1:c.1931T>A | XP_011533911.1:p.Met644Lys | |
| XM_011535610.1:c.1928T>A | XP_011533912.1:p.Met643Lys | |
| XM_011535611.1:c.1895T>A | XP_011533913.1:p.Met632Lys | |
| XM_011535612.1:c.1810+41586T>A | XP_011533914.1:n.1810+41586T>A | |
| XM_011535613.1:c.1738+41586T>A | XP_011533915.1:n.1738+41586T>A | |
| XM_011535615.1:c.1735+41586T>A | XP_011533917.1:n.1735+41586T>A | |
| XM_011535616.1:c.1720+41586T>A | XP_011533918.1:n.1720+41586T>A | |
| XM_011535617.1:c.1582+41586T>A | XP_011533919.1:n.1582+41586T>A | |
| XM_011535618.1:c.455T>A | XP_011533920.1:p.Met152Lys | |
| NM_001350414.1:c.2084T>A | NP_001337343.1:p.Met695Lys | |
| NM_001350415.1:c.2180T>A | NP_001337344.1:p.Met727Lys | |
| NM_001350416.1:c.2129T>A | NP_001337345.1:p.Met710Lys | |
| NM_001350417.1:c.1813+41586T>A | NP_001337346.1:n.1813+41586T>A | |
| NM_001350418.1:c.2102T>A | NP_001337347.1:p.Met701Lys | |
| NM_001350419.1:c.1585+41586T>A | NP_001337348.1:n.1585+41586T>A | |
| NM_001350420.1:c.2237T>A | NP_001337349.1:p.Met746Lys | |
| NM_001350421.1:c.1982T>A | NP_001337350.1:p.Met661Lys | |
| NM_001350422.1:c.1810+41586T>A | NP_001337351.1:n.1810+41586T>A | |
| NM_001350423.1:c.1871T>A | NP_001337352.1:p.Met624Lys | |
| NM_001350424.1:c.1672+41586T>A | NP_001337353.1:n.1672+41586T>A | |
| NM_001350425.1:c.2081T>A | NP_001337354.1:p.Met694Lys | |
| NM_001350426.1:c.1660+41586T>A | NP_001337355.1:n.1660+41586T>A | |
| NM_001350427.1:c.1738+41586T>A | NP_001337356.1:n.1738+41586T>A | |
| NM_001350428.1:c.1744+41586T>A | NP_001337357.1:n.1744+41586T>A | |
| NM_001350429.1:c.1901T>A | NP_001337358.1:p.Met634Lys | |
| NM_001350430.1:c.1741+41586T>A | NP_001337359.1:n.1741+41586T>A | |
| NM_001350431.1:c.2219T>A | NP_001337360.1:p.Met740Lys | |
| NM_001350432.1:c.1648+41586T>A | NP_001337361.1:n.1648+41586T>A | |
| NM_001350433.1:c.2210T>A | NP_001337362.1:p.Met737Lys | |
| NM_001350434.1:c.1888+41586T>A | NP_001337363.1:n.1888+41586T>A | |
| NM_001350435.1:c.2072T>A | NP_001337364.1:p.Met691Lys | |
| NM_001350436.1:c.2315T>A | NP_001337365.1:p.Met772Lys | |
| NM_001350437.1:c.2066T>A | NP_001337366.1:p.Met689Lys | |
| NM_001350438.1:c.1993+41586T>A | NP_001337367.1:n.1993+41586T>A | |
| NM_001350439.1:c.2054T>A | NP_001337368.1:p.Met685Lys | |
| NM_001350440.1:c.1657+41586T>A | NP_001337369.1:n.1657+41586T>A | |
| NM_001350441.1:c.2051T>A | NP_001337370.1:p.Met684Lys | |
| NM_001350442.1:c.1996+41586T>A | NP_001337371.1:n.1996+41586T>A | |
| NM_001350443.1:c.2024T>A | NP_001337372.1:p.Met675Lys | |
| NM_001350444.1:c.1898T>A | NP_001337373.1:p.Met633Lys | |
| NM_001350445.1:c.1894+41586T>A | NP_001337374.1:n.1894+41586T>A | |
| NM_001350446.1:c.2309T>A | NP_001337375.1:p.Met770Lys | |
| NM_001350447.1:c.1970T>A | NP_001337376.1:p.Met657Lys | |
| NM_001350448.1:c.2126T>A | NP_001337377.1:p.Met709Lys | |
| NM_001350449.1:c.1720+41586T>A | NP_001337378.1:n.1720+41586T>A | |
| NM_001350450.1:c.1669+41586T>A | NP_001337379.1:n.1669+41586T>A | |
| NM_001350454.1:c.2033T>A | NP_001337383.1:p.Met678Lys | |
| NM_001350455.1:c.1588+41586T>A | NP_001337384.1:n.1588+41586T>A | |
| NM_001350456.1:c.2306T>A | NP_001337385.1:p.Met769Lys | |
| NM_001350457.1:c.2063T>A | NP_001337386.1:p.Met688Lys | |
| NM_001350458.1:c.2132T>A | NP_001337387.1:p.Met711Lys | |
| NM_001350459.1:c.1985T>A | NP_001337388.1:p.Met662Lys | |
| NM_001350460.1:c.2003T>A | NP_001337389.1:p.Met668Lys | |
| NM_001350461.1:c.1853T>A | NP_001337390.1:p.Met618Lys | |
| NM_001350462.1:c.2168T>A | NP_001337391.1:p.Met723Lys | |
| NM_001350463.1:c.1808T>A | NP_001337392.1:p.Met603Lys | |
| NM_001350464.1:c.1811T>A | NP_001337393.1:p.Met604Lys | |
| NM_001350465.1:c.1498+41586T>A | NP_001337394.1:n.1498+41586T>A | |
| NM_001350466.1:c.1814T>A | NP_001337395.1:p.Met605Lys | |
| NM_001350467.1:c.1730T>A | NP_001337396.1:p.Met577Lys | |
| NM_001350468.1:c.1655T>A | NP_001337397.1:p.Met552Lys | |
| NM_001350469.1:c.1883T>A | NP_001337398.1:p.Met628Lys | |
| NM_001350470.1:c.1774+41586T>A | NP_001337399.1:n.1774+41586T>A | |
| NM_001350471.1:c.1964T>A | NP_001337400.1:p.Met655Lys | |
| NM_001350472.1:c.1693+41586T>A | NP_001337401.1:n.1693+41586T>A | |
| NM_001350473.1:c.1696+41586T>A | NP_001337402.1:n.1696+41586T>A | |
| NM_001350474.1:c.1856T>A | NP_001337403.1:p.Met619Lys | |
| XM_005248688.4:c.3632T>A | XP_005248745.1:p.Met1211Lys | |
| XM_011535604.3:c.3701T>A | XP_011533906.2:p.Met1234Lys | |
| XM_017010516.2:c.3950T>A | XP_016866005.1:p.Met1317Lys | |
| XM_017010517.2:c.3857T>A | XP_016866006.1:p.Met1286Lys | |
| XM_017010518.2:c.3854T>A | XP_016866007.1:p.Met1285Lys | |
| XM_017010519.2:c.3797T>A | XP_016866008.1:p.Met1266Lys | |
| XM_017010520.2:c.3785T>A | XP_016866009.1:p.Met1262Lys | |
| XM_017010521.2:c.3767T>A | XP_016866010.1:p.Met1256Lys | |
| XM_017010522.2:c.3704T>A | XP_016866011.1:p.Met1235Lys | |
| XM_017010523.2:c.3677T>A | XP_016866012.1:p.Met1226Lys | |
| XM_017010524.2:c.3659T>A | XP_016866013.1:p.Met1220Lys | |
| XM_017010525.2:c.3644T>A | XP_016866014.1:p.Met1215Lys | |
| XM_017010526.2:c.3632T>A | XP_016866015.1:p.Met1211Lys | |
| XM_017010527.2:c.3629T>A | XP_016866016.1:p.Met1210Lys | |
| XM_017010537.2:c.2207T>A | XP_016866026.1:p.Met736Lys | |
| XM_017010544.2:c.2051T>A | XP_016866033.1:p.Met684Lys | |
| XM_017010546.2:c.2027T>A | XP_016866035.1:p.Met676Lys | |
| XM_017010556.2:c.281T>A | XP_016866045.1:p.Met94Lys | |
| XM_017010557.2:c.113T>A | XP_016866046.1:p.Met38Lys | |
| XM_017010558.2:c.113T>A | XP_016866047.1:p.Met38Lys | |
| XM_024446369.1:c.4037T>A | XP_024302137.1:p.Met1346Lys | |
| XM_024446370.1:c.3674T>A | XP_024302138.1:p.Met1225Lys | |
| XM_024446371.1:c.3635T>A | XP_024302139.1:p.Met1212Lys | |
| XM_024446372.1:c.2204T>A | XP_024302140.1:p.Met735Lys | |
| NM_001168407.2:c.2123T>A | NP_001161879.1:p.Met708Lys | |
| NM_001168408.2:c.1741+41586T>A | NP_001161880.1:n.1741+41586T>A | |
| NM_001168409.2:c.1570+41586T>A | NP_001161881.1:n.1570+41586T>A | |
| NM_001168410.2:c.1768+41586T>A | NP_001161882.1:n.1768+41586T>A | |
| NM_001350414.2:c.2084T>A | NP_001337343.1:p.Met695Lys | |
| NM_001350415.2:c.2180T>A | NP_001337344.1:p.Met727Lys | |
| NM_001350416.2:c.2129T>A | NP_001337345.1:p.Met710Lys | |
| NM_001350417.2:c.1813+41586T>A | NP_001337346.1:n.1813+41586T>A | |
| NM_001350418.2:c.2102T>A | NP_001337347.1:p.Met701Lys | |
| NM_001350419.2:c.1585+41586T>A | NP_001337348.1:n.1585+41586T>A | |
| NM_001350420.2:c.2237T>A | NP_001337349.1:p.Met746Lys | |
| NM_001350421.2:c.1982T>A | NP_001337350.1:p.Met661Lys | |
| NM_001350422.2:c.1810+41586T>A | NP_001337351.1:n.1810+41586T>A | |
| NM_001350423.2:c.1871T>A | NP_001337352.1:p.Met624Lys | |
| NM_001350424.2:c.1672+41586T>A | NP_001337353.1:n.1672+41586T>A | |
| NM_001350425.2:c.2081T>A | NP_001337354.1:p.Met694Lys | |
| NM_001350426.2:c.1660+41586T>A | NP_001337355.1:n.1660+41586T>A | |
| NM_001350427.2:c.1738+41586T>A | NP_001337356.1:n.1738+41586T>A | |
| NM_001350428.2:c.1744+41586T>A | NP_001337357.1:n.1744+41586T>A | |
| NM_001350429.2:c.1901T>A | NP_001337358.1:p.Met634Lys | |
| NM_001350430.2:c.1741+41586T>A | NP_001337359.1:n.1741+41586T>A | |
| NM_001350431.2:c.2219T>A | NP_001337360.1:p.Met740Lys | |
| NM_001350432.2:c.1648+41586T>A | NP_001337361.1:n.1648+41586T>A | |
| NM_001350433.2:c.2210T>A | NP_001337362.1:p.Met737Lys | |
| NM_001350434.2:c.1888+41586T>A | NP_001337363.1:n.1888+41586T>A | |
| NM_001350435.2:c.2072T>A | NP_001337364.1:p.Met691Lys | |
| NM_001350436.2:c.2315T>A | NP_001337365.1:p.Met772Lys | |
| NM_001350437.2:c.2066T>A | NP_001337366.1:p.Met689Lys | |
| NM_001350438.2:c.1993+41586T>A | NP_001337367.1:n.1993+41586T>A | |
| NM_001350439.2:c.2054T>A | NP_001337368.1:p.Met685Lys | |
| NM_001350440.2:c.1657+41586T>A | NP_001337369.1:n.1657+41586T>A | |
| NM_001350441.2:c.2051T>A | NP_001337370.1:p.Met684Lys | |
| NM_001350442.2:c.1996+41586T>A | NP_001337371.1:n.1996+41586T>A | |
| NM_001350443.2:c.2024T>A | NP_001337372.1:p.Met675Lys | |
| NM_001350444.2:c.1898T>A | NP_001337373.1:p.Met633Lys | |
| NM_001350445.2:c.1894+41586T>A | NP_001337374.1:n.1894+41586T>A | |
| NM_001350446.2:c.2309T>A | NP_001337375.1:p.Met770Lys | |
| NM_001350447.2:c.1970T>A | NP_001337376.1:p.Met657Lys | |
| NM_001350448.2:c.2126T>A | NP_001337377.1:p.Met709Lys | |
| NM_001350449.2:c.1720+41586T>A | NP_001337378.1:n.1720+41586T>A | |
| NM_001350450.2:c.1669+41586T>A | NP_001337379.1:n.1669+41586T>A | |
| NM_001350454.2:c.2033T>A | NP_001337383.1:p.Met678Lys | |
| NM_001350455.2:c.1588+41586T>A | NP_001337384.1:n.1588+41586T>A | |
| NM_001350456.2:c.2306T>A | NP_001337385.1:p.Met769Lys | |
| NM_001350457.2:c.2063T>A | NP_001337386.1:p.Met688Lys | |
| NM_001350458.2:c.2132T>A | NP_001337387.1:p.Met711Lys | |
| NM_001350459.2:c.1985T>A | NP_001337388.1:p.Met662Lys | |
| NM_001350460.2:c.2003T>A | NP_001337389.1:p.Met668Lys | |
| NM_001350461.2:c.1853T>A | NP_001337390.1:p.Met618Lys | |
| NM_001350462.2:c.2168T>A | NP_001337391.1:p.Met723Lys | |
| NM_001350463.2:c.1808T>A | NP_001337392.1:p.Met603Lys | |
| NM_001350464.2:c.1811T>A | NP_001337393.1:p.Met604Lys | |
| NM_001350465.2:c.1498+41586T>A | NP_001337394.1:n.1498+41586T>A | |
| NM_001350466.2:c.1814T>A | NP_001337395.1:p.Met605Lys | |
| NM_001350467.2:c.1730T>A | NP_001337396.1:p.Met577Lys | |
| NM_001350468.2:c.1655T>A | NP_001337397.1:p.Met552Lys | |
| NM_001350469.2:c.1883T>A | NP_001337398.1:p.Met628Lys | |
| NM_001350470.2:c.1774+41586T>A | NP_001337399.1:n.1774+41586T>A | |
| NM_001350471.2:c.1964T>A | NP_001337400.1:p.Met655Lys | |
| NM_001350472.2:c.1693+41586T>A | NP_001337401.1:n.1693+41586T>A | |
| NM_001350473.2:c.1696+41586T>A | NP_001337402.1:n.1696+41586T>A | |
| NM_001350474.2:c.1856T>A | NP_001337403.1:p.Met619Lys | |
| NM_014989.7:c.4163T>A MANE Select | NP_055804.2:p.Met1388Lys |