Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518886T>A , CM000671.2:g.131518886T>A	GRCh38
NC_000009.11:g.134394273T>A , CM000671.1:g.134394273T>A	GRCh37
NC_000009.10:g.133384094T>A	NCBI36
NG_008896.1:g.20985T>A
NG_008896.2:g.20985T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1253T>A	ENSP00000343034.7:p.Val418Asp
ENST00000404875.7:n.1955T>A
ENST00000423007.6:c.1472T>A	ENSP00000404119.2:p.Val491Asp
ENST00000677295.2:c.*1759T>A	ENSP00000504346.2:n.*1759T>A
ENST00000678264.2:c.*1598T>A	ENSP00000503157.2:n.*1598T>A
ENST00000682070.1:n.1880T>A
ENST00000682539.1:c.353T>A
ENST00000682813.1:n.1819T>A
ENST00000683392.1:n.4162T>A
ENST00000683712.1:n.1820T>A
ENST00000683900.1:n.3315T>A
ENST00000684062.1:n.2081T>A
ENST00000684579.1:n.3261T>A
ENST00000684679.1:n.642T>A
ENST00000341012.12:c.1253T>A	ENSP00000343034.7:p.Val418Asp
ENST00000372220.5:c.284T>A	ENSP00000361294.5:p.Val95Asp
ENST00000372228.9:c.1481T>A	ENSP00000361302.3:p.Val494Asp
ENST00000402686.8:c.1415T>A MANE Select	ENSP00000385797.4:p.Val472Asp
ENST00000676640.1:c.1415T>A	ENSP00000503281.1:p.Val472Asp
ENST00000676803.1:c.590T>A	ENSP00000503093.1:p.Val197Asp
ENST00000676835.1:c.*630T>A	ENSP00000502911.1:n.*630T>A
ENST00000677029.1:c.959T>A	ENSP00000502936.1:p.Val320Asp
ENST00000677099.1:c.*1125T>A	ENSP00000504553.1:n.*1125T>A
ENST00000677216.1:c.1064T>A	ENSP00000503772.1:p.Val355Asp
ENST00000677221.1:n.440T>A
ENST00000677295.1:c.*792T>A	ENSP00000504346.1:n.*792T>A
ENST00000677444.1:c.1360T>A
ENST00000677586.1:n.896T>A
ENST00000677626.1:c.1064T>A	ENSP00000503552.1:p.Val355Asp
ENST00000677677.1:n.1375T>A
ENST00000677853.1:c.*423T>A	ENSP00000503488.1:n.*423T>A
ENST00000678202.1:n.574T>A
ENST00000678264.1:c.*792T>A	ENSP00000503157.1:n.*792T>A
ENST00000678303.1:c.1325T>A	ENSP00000503696.1:p.Val442Asp
ENST00000678366.1:c.*1664T>A	ENSP00000504353.1:n.*1664T>A
ENST00000678546.1:c.*1360T>A	ENSP00000503062.1:n.*1360T>A
ENST00000678548.1:c.*1487T>A	ENSP00000503934.1:n.*1487T>A
ENST00000678626.1:n.1251T>A
ENST00000678733.1:c.496T>A
ENST00000678739.1:c.*1741T>A	ENSP00000503806.1:n.*1741T>A
ENST00000678833.1:c.*862T>A	ENSP00000503893.1:n.*862T>A
ENST00000679023.1:c.1253T>A	ENSP00000503718.1:p.Val418Asp
ENST00000679076.1:c.1034T>A
ENST00000679111.1:c.*171T>A	ENSP00000504257.1:n.*171T>A
ENST00000679189.1:c.1064T>A	ENSP00000503356.1:p.Val355Asp
ENST00000341012.11:c.1253T>A	ENSP00000343034.7:p.Val418Asp
ENST00000372220.4:c.278T>A	ENSP00000361294.4:p.Val93Asp
ENST00000372228.7:c.1481T>A	ENSP00000361302.3:p.Val494Asp
ENST00000402686.7:c.1415T>A	ENSP00000385797.3:p.Val472Asp
ENST00000404875.6:c.1064T>A	ENSP00000384531.2:p.Val355Asp
ENST00000423007.5:c.1415T>A	ENSP00000404119.1:p.Val472Asp
ENST00000467848.1:n.119T>A
ENST00000485278.5:n.1970T>A
NM_001077365.1:c.1415T>A	NP_001070833.1:p.Val472Asp
NM_001077366.1:c.1253T>A	NP_001070834.1:p.Val418Asp
NM_001136113.1:c.1415T>A	NP_001129585.1:p.Val472Asp
NM_001136114.1:c.1064T>A	NP_001129586.1:p.Val355Asp
NM_007171.3:c.1481T>A	NP_009102.3:p.Val494Asp
XM_005272156.1:c.1481T>A	XP_005272213.1:p.Val494Asp
XM_005272158.1:c.1319T>A	XP_005272215.1:p.Val440Asp
XM_005272159.1:c.1130T>A	XP_005272216.1:p.Val377Asp
XM_005272162.1:c.284T>A	XP_005272219.1:p.Val95Asp
XM_006716932.1:c.1130T>A	XP_006716995.1:p.Val377Asp
XM_011518140.1:c.1334T>A	XP_011516442.1:p.Val445Asp
XM_011518141.1:c.1268T>A	XP_011516443.1:p.Val423Asp
XM_011518142.1:c.1172T>A	XP_011516444.1:p.Val391Asp
XM_011518143.1:c.1166T>A	XP_011516445.1:p.Val389Asp
XM_011518144.1:c.*171T>A	XP_011516446.1:n.*171T>A
XM_011518145.1:c.1025T>A	XP_011516447.1:p.Val342Asp
XM_011518146.1:c.*171T>A	XP_011516448.1:n.*171T>A
XM_011518147.1:c.353T>A	XP_011516449.1:p.Val118Asp
XR_929703.1:n.1657T>A
NM_001353193.1:c.1481T>A	NP_001340122.1:p.Val494Asp
NM_001353194.1:c.1253T>A	NP_001340123.1:p.Val418Asp
NM_001353195.1:c.1064T>A	NP_001340124.1:p.Val355Asp
NM_001353196.1:c.1325T>A	NP_001340125.1:p.Val442Asp
NM_001353197.1:c.1319T>A	NP_001340126.1:p.Val440Asp
NM_001353198.1:c.1319T>A	NP_001340127.1:p.Val440Asp
NM_001353199.1:c.1130T>A	NP_001340128.1:p.Val377Asp
NM_001353200.1:c.959T>A	NP_001340129.1:p.Val320Asp
NR_148391.1:n.1465T>A
NR_148392.1:n.1683T>A
NR_148393.1:n.1604T>A
NR_148394.1:n.1358T>A
NR_148395.1:n.1756T>A
NR_148396.1:n.1390T>A
NR_148397.1:n.1515T>A
NR_148398.1:n.1470T>A
NR_148399.1:n.1996T>A
NR_148400.1:n.1595T>A
XM_005272162.3:c.284T>A	XP_005272219.1:p.Val95Asp
XM_006716932.2:c.1130T>A	XP_006716995.1:p.Val377Asp
XM_011518140.2:c.1334T>A	XP_011516442.1:p.Val445Asp
XM_011518141.2:c.1268T>A	XP_011516443.1:p.Val423Asp
XM_011518142.2:c.1172T>A	XP_011516444.1:p.Val391Asp
XM_011518143.2:c.1166T>A	XP_011516445.1:p.Val389Asp
XM_011518145.2:c.1025T>A	XP_011516447.1:p.Val342Asp
XM_017014205.2:c.284T>A	XP_016869694.1:p.Val95Asp
XM_024447380.1:c.284T>A	XP_024303148.1:p.Val95Asp
XM_024447381.1:c.590T>A	XP_024303149.1:p.Val197Asp
XM_024447382.1:c.284T>A	XP_024303150.1:p.Val95Asp
XR_001746160.2:n.1585T>A
XR_001746162.2:n.1790T>A
XR_001746164.1:n.1507T>A
XR_001746166.2:n.1802T>A
NM_001077365.2:c.1415T>A MANE Select	NP_001070833.1:p.Val472Asp
NM_001077366.2:c.1253T>A	NP_001070834.1:p.Val418Asp
NM_001136113.2:c.1415T>A	NP_001129585.1:p.Val472Asp
NM_001136114.2:c.1064T>A	NP_001129586.1:p.Val355Asp
NM_001353193.2:c.1481T>A	NP_001340122.2:p.Val494Asp
NM_001353194.2:c.1253T>A	NP_001340123.1:p.Val418Asp
NM_001353195.2:c.1064T>A	NP_001340124.1:p.Val355Asp
NM_001353196.2:c.1325T>A	NP_001340125.1:p.Val442Asp
NM_001353197.2:c.1319T>A	NP_001340126.2:p.Val440Asp
NM_001353198.2:c.1319T>A	NP_001340127.2:p.Val440Asp
NM_001353199.2:c.1130T>A	NP_001340128.2:p.Val377Asp
NM_001353200.2:c.959T>A	NP_001340129.1:p.Val320Asp
NM_001374689.1:c.1403T>A	NP_001361618.1:p.Val468Asp
NM_001374690.1:c.1365+349T>A	NP_001361619.1:n.1365+349T>A
NM_001374691.1:c.1064T>A	NP_001361620.1:p.Val355Asp
NM_001374692.1:c.1064T>A	NP_001361621.1:p.Val355Asp
NM_001374693.1:c.1064T>A	NP_001361622.1:p.Val355Asp
NM_001374695.1:c.1025T>A	NP_001361624.1:p.Val342Asp
NM_007171.4:c.1481T>A	NP_009102.4:p.Val494Asp
NR_148391.2:n.1449T>A
NR_148392.2:n.1667T>A
NR_148393.2:n.1588T>A
NR_148394.2:n.1342T>A
NR_148395.2:n.1740T>A
NR_148396.2:n.1374T>A
NR_148397.2:n.1499T>A
NR_148398.2:n.1454T>A
NR_148399.2:n.1980T>A
NR_148400.2:n.1579T>A

Linked Data

Genomic Alleles

Transcript Alleles