Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515520C>A , CM000671.2:g.131515520C>A	GRCh38
NC_000009.11:g.134390907C>A , CM000671.1:g.134390907C>A	GRCh37
NC_000009.10:g.133380728C>A	NCBI36
NG_008896.1:g.17619C>A
NG_008896.2:g.17619C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1108C>A	ENSP00000343034.7:p.Leu370Met
ENST00000404875.7:n.1810C>A
ENST00000423007.6:c.1327C>A	ENSP00000404119.2:p.Leu443Met
ENST00000677295.2:c.*1614C>A	ENSP00000504346.2:n.*1614C>A
ENST00000678264.2:c.*1453C>A	ENSP00000503157.2:n.*1453C>A
ENST00000682070.1:n.1735C>A
ENST00000682539.1:c.95C>A
ENST00000682813.1:n.1535C>A
ENST00000683392.1:n.4017C>A
ENST00000683712.1:n.1675C>A
ENST00000683900.1:n.3170C>A
ENST00000684062.1:n.1936C>A
ENST00000684579.1:n.3116C>A
ENST00000341012.12:c.1108C>A	ENSP00000343034.7:p.Leu370Met
ENST00000372220.5:c.139C>A	ENSP00000361294.5:p.Leu47Met
ENST00000372228.9:c.1336C>A	ENSP00000361302.3:p.Leu446Met
ENST00000402686.8:c.1270C>A MANE Select	ENSP00000385797.4:p.Leu424Met
ENST00000676640.1:c.1270C>A	ENSP00000503281.1:p.Leu424Met
ENST00000676803.1:c.445C>A	ENSP00000503093.1:p.Leu149Met
ENST00000676835.1:c.*485C>A	ENSP00000502911.1:n.*485C>A
ENST00000677029.1:c.814C>A	ENSP00000502936.1:p.Leu272Met
ENST00000677099.1:c.*980C>A	ENSP00000504553.1:n.*980C>A
ENST00000677216.1:c.919C>A	ENSP00000503772.1:p.Leu307Met
ENST00000677295.1:c.*647C>A	ENSP00000504346.1:n.*647C>A
ENST00000677444.1:c.1076C>A
ENST00000677586.1:n.751C>A
ENST00000677626.1:c.919C>A	ENSP00000503552.1:p.Leu307Met
ENST00000677677.1:n.1230C>A
ENST00000677853.1:c.*278C>A	ENSP00000503488.1:n.*278C>A
ENST00000677944.1:c.532C>A
ENST00000678264.1:c.*647C>A	ENSP00000503157.1:n.*647C>A
ENST00000678303.1:c.1180C>A	ENSP00000503696.1:p.Leu394Met
ENST00000678366.1:c.*1519C>A	ENSP00000504353.1:n.*1519C>A
ENST00000678546.1:c.*1215C>A	ENSP00000503062.1:n.*1215C>A
ENST00000678548.1:c.*1342C>A	ENSP00000503934.1:n.*1342C>A
ENST00000678626.1:n.967C>A
ENST00000678733.1:c.351C>A
ENST00000678739.1:c.*1596C>A	ENSP00000503806.1:n.*1596C>A
ENST00000678795.1:n.357C>A
ENST00000678833.1:c.*717C>A	ENSP00000503893.1:n.*717C>A
ENST00000678942.1:c.450C>A	ENSP00000504690.1:n.450C>A
ENST00000679023.1:c.1108C>A	ENSP00000503718.1:p.Leu370Met
ENST00000679076.1:c.889C>A
ENST00000679111.1:c.1270C>A	ENSP00000504257.1:p.Leu424Met
ENST00000679189.1:c.919C>A	ENSP00000503356.1:p.Leu307Met
ENST00000341012.11:c.1108C>A	ENSP00000343034.7:p.Leu370Met
ENST00000372228.7:c.1336C>A	ENSP00000361302.3:p.Leu446Met
ENST00000402686.7:c.1270C>A	ENSP00000385797.3:p.Leu424Met
ENST00000404875.6:c.919C>A	ENSP00000384531.2:p.Leu307Met
ENST00000423007.5:c.1270C>A	ENSP00000404119.1:p.Leu424Met
ENST00000485278.5:n.1825C>A
NM_001077365.1:c.1270C>A	NP_001070833.1:p.Leu424Met
NM_001077366.1:c.1108C>A	NP_001070834.1:p.Leu370Met
NM_001136113.1:c.1270C>A	NP_001129585.1:p.Leu424Met
NM_001136114.1:c.919C>A	NP_001129586.1:p.Leu307Met
NM_007171.3:c.1336C>A	NP_009102.3:p.Leu446Met
XM_005272156.1:c.1336C>A	XP_005272213.1:p.Leu446Met
XM_005272158.1:c.1174C>A	XP_005272215.1:p.Leu392Met
XM_005272159.1:c.985C>A	XP_005272216.1:p.Leu329Met
XM_005272162.1:c.139C>A	XP_005272219.1:p.Leu47Met
XM_006716932.1:c.985C>A	XP_006716995.1:p.Leu329Met
XM_011518140.1:c.1189C>A	XP_011516442.1:p.Leu397Met
XM_011518141.1:c.1123C>A	XP_011516443.1:p.Leu375Met
XM_011518142.1:c.1027C>A	XP_011516444.1:p.Leu343Met
XM_011518143.1:c.1021C>A	XP_011516445.1:p.Leu341Met
XM_011518144.1:c.1336C>A	XP_011516446.1:p.Leu446Met
XM_011518145.1:c.880C>A	XP_011516447.1:p.Leu294Met
XM_011518146.1:c.1021C>A	XP_011516448.1:p.Leu341Met
XR_929703.1:n.1512C>A
NM_001353193.1:c.1336C>A	NP_001340122.1:p.Leu446Met
NM_001353194.1:c.1108C>A	NP_001340123.1:p.Leu370Met
NM_001353195.1:c.919C>A	NP_001340124.1:p.Leu307Met
NM_001353196.1:c.1180C>A	NP_001340125.1:p.Leu394Met
NM_001353197.1:c.1174C>A	NP_001340126.1:p.Leu392Met
NM_001353198.1:c.1174C>A	NP_001340127.1:p.Leu392Met
NM_001353199.1:c.985C>A	NP_001340128.1:p.Leu329Met
NM_001353200.1:c.814C>A	NP_001340129.1:p.Leu272Met
NR_148391.1:n.1320C>A
NR_148392.1:n.1538C>A
NR_148393.1:n.1320C>A
NR_148394.1:n.1213C>A
NR_148395.1:n.1472C>A
NR_148396.1:n.1106C>A
NR_148397.1:n.1370C>A
NR_148398.1:n.1325C>A
NR_148399.1:n.1712C>A
NR_148400.1:n.1311C>A
XM_005272162.3:c.139C>A	XP_005272219.1:p.Leu47Met
XM_006716932.2:c.985C>A	XP_006716995.1:p.Leu329Met
XM_011518140.2:c.1189C>A	XP_011516442.1:p.Leu397Met
XM_011518141.2:c.1123C>A	XP_011516443.1:p.Leu375Met
XM_011518142.2:c.1027C>A	XP_011516444.1:p.Leu343Met
XM_011518143.2:c.1021C>A	XP_011516445.1:p.Leu341Met
XM_011518145.2:c.880C>A	XP_011516447.1:p.Leu294Met
XM_017014205.2:c.139C>A	XP_016869694.1:p.Leu47Met
XM_024447380.1:c.139C>A	XP_024303148.1:p.Leu47Met
XM_024447381.1:c.445C>A	XP_024303149.1:p.Leu149Met
XM_024447382.1:c.139C>A	XP_024303150.1:p.Leu47Met
XR_001746160.2:n.1440C>A
XR_001746162.2:n.1506C>A
XR_001746164.1:n.1223C>A
XR_001746166.2:n.1657C>A
NM_001077365.2:c.1270C>A MANE Select	NP_001070833.1:p.Leu424Met
NM_001077366.2:c.1108C>A	NP_001070834.1:p.Leu370Met
NM_001136113.2:c.1270C>A	NP_001129585.1:p.Leu424Met
NM_001136114.2:c.919C>A	NP_001129586.1:p.Leu307Met
NM_001353193.2:c.1336C>A	NP_001340122.2:p.Leu446Met
NM_001353194.2:c.1108C>A	NP_001340123.1:p.Leu370Met
NM_001353195.2:c.919C>A	NP_001340124.1:p.Leu307Met
NM_001353196.2:c.1180C>A	NP_001340125.1:p.Leu394Met
NM_001353197.2:c.1174C>A	NP_001340126.2:p.Leu392Met
NM_001353198.2:c.1174C>A	NP_001340127.2:p.Leu392Met
NM_001353199.2:c.985C>A	NP_001340128.2:p.Leu329Met
NM_001353200.2:c.814C>A	NP_001340129.1:p.Leu272Met
NM_001374689.1:c.1258C>A	NP_001361618.1:p.Leu420Met
NM_001374690.1:c.1270C>A	NP_001361619.1:p.Leu424Met
NM_001374691.1:c.919C>A	NP_001361620.1:p.Leu307Met
NM_001374692.1:c.919C>A	NP_001361621.1:p.Leu307Met
NM_001374693.1:c.919C>A	NP_001361622.1:p.Leu307Met
NM_001374695.1:c.880C>A	NP_001361624.1:p.Leu294Met
NM_007171.4:c.1336C>A	NP_009102.4:p.Leu446Met
NR_148391.2:n.1304C>A
NR_148392.2:n.1522C>A
NR_148393.2:n.1304C>A
NR_148394.2:n.1197C>A
NR_148395.2:n.1456C>A
NR_148396.2:n.1090C>A
NR_148397.2:n.1354C>A
NR_148398.2:n.1309C>A
NR_148399.2:n.1696C>A
NR_148400.2:n.1295C>A

Linked Data

Genomic Alleles

Transcript Alleles