Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515515G>A , CM000671.2:g.131515515G>A	GRCh38
NC_000009.11:g.134390902G>A , CM000671.1:g.134390902G>A	GRCh37
NC_000009.10:g.133380723G>A	NCBI36
NG_008896.1:g.17614G>A
NG_008896.2:g.17614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1103G>A	ENSP00000343034.7:p.Trp368Ter
ENST00000404875.7:n.1805G>A
ENST00000423007.6:c.1322G>A	ENSP00000404119.2:p.Trp441Ter
ENST00000677295.2:c.*1609G>A	ENSP00000504346.2:n.*1609G>A
ENST00000678264.2:c.*1448G>A	ENSP00000503157.2:n.*1448G>A
ENST00000682070.1:n.1730G>A
ENST00000682539.1:c.90G>A
ENST00000682813.1:n.1530G>A
ENST00000683392.1:n.4012G>A
ENST00000683712.1:n.1670G>A
ENST00000683900.1:n.3165G>A
ENST00000684062.1:n.1931G>A
ENST00000684579.1:n.3111G>A
ENST00000341012.12:c.1103G>A	ENSP00000343034.7:p.Trp368Ter
ENST00000372220.5:c.134G>A	ENSP00000361294.5:p.Trp45Ter
ENST00000372228.9:c.1331G>A	ENSP00000361302.3:p.Trp444Ter
ENST00000402686.8:c.1265G>A MANE Select	ENSP00000385797.4:p.Trp422Ter
ENST00000676640.1:c.1265G>A	ENSP00000503281.1:p.Trp422Ter
ENST00000676803.1:c.440G>A	ENSP00000503093.1:p.Trp147Ter
ENST00000676835.1:c.*480G>A	ENSP00000502911.1:n.*480G>A
ENST00000677029.1:c.809G>A	ENSP00000502936.1:p.Trp270Ter
ENST00000677099.1:c.*975G>A	ENSP00000504553.1:n.*975G>A
ENST00000677216.1:c.914G>A	ENSP00000503772.1:p.Trp305Ter
ENST00000677295.1:c.*642G>A	ENSP00000504346.1:n.*642G>A
ENST00000677444.1:c.1071G>A
ENST00000677586.1:n.746G>A
ENST00000677626.1:c.914G>A	ENSP00000503552.1:p.Trp305Ter
ENST00000677677.1:n.1225G>A
ENST00000677853.1:c.*273G>A	ENSP00000503488.1:n.*273G>A
ENST00000677944.1:c.527G>A
ENST00000678264.1:c.*642G>A	ENSP00000503157.1:n.*642G>A
ENST00000678303.1:c.1175G>A	ENSP00000503696.1:p.Trp392Ter
ENST00000678366.1:c.*1514G>A	ENSP00000504353.1:n.*1514G>A
ENST00000678546.1:c.*1210G>A	ENSP00000503062.1:n.*1210G>A
ENST00000678548.1:c.*1337G>A	ENSP00000503934.1:n.*1337G>A
ENST00000678626.1:n.962G>A
ENST00000678733.1:c.346G>A
ENST00000678739.1:c.*1591G>A	ENSP00000503806.1:n.*1591G>A
ENST00000678795.1:n.352G>A
ENST00000678833.1:c.*712G>A	ENSP00000503893.1:n.*712G>A
ENST00000678942.1:c.445G>A	ENSP00000504690.1:n.445G>A
ENST00000679023.1:c.1103G>A	ENSP00000503718.1:p.Trp368Ter
ENST00000679076.1:c.884G>A
ENST00000679111.1:c.1265G>A	ENSP00000504257.1:p.Trp422Ter
ENST00000679189.1:c.914G>A	ENSP00000503356.1:p.Trp305Ter
ENST00000341012.11:c.1103G>A	ENSP00000343034.7:p.Trp368Ter
ENST00000372228.7:c.1331G>A	ENSP00000361302.3:p.Trp444Ter
ENST00000402686.7:c.1265G>A	ENSP00000385797.3:p.Trp422Ter
ENST00000404875.6:c.914G>A	ENSP00000384531.2:p.Trp305Ter
ENST00000423007.5:c.1265G>A	ENSP00000404119.1:p.Trp422Ter
ENST00000485278.5:n.1820G>A
NM_001077365.1:c.1265G>A	NP_001070833.1:p.Trp422Ter
NM_001077366.1:c.1103G>A	NP_001070834.1:p.Trp368Ter
NM_001136113.1:c.1265G>A	NP_001129585.1:p.Trp422Ter
NM_001136114.1:c.914G>A	NP_001129586.1:p.Trp305Ter
NM_007171.3:c.1331G>A	NP_009102.3:p.Trp444Ter
XM_005272156.1:c.1331G>A	XP_005272213.1:p.Trp444Ter
XM_005272158.1:c.1169G>A	XP_005272215.1:p.Trp390Ter
XM_005272159.1:c.980G>A	XP_005272216.1:p.Trp327Ter
XM_005272162.1:c.134G>A	XP_005272219.1:p.Trp45Ter
XM_006716932.1:c.980G>A	XP_006716995.1:p.Trp327Ter
XM_011518140.1:c.1184G>A	XP_011516442.1:p.Trp395Ter
XM_011518141.1:c.1118G>A	XP_011516443.1:p.Trp373Ter
XM_011518142.1:c.1022G>A	XP_011516444.1:p.Trp341Ter
XM_011518143.1:c.1016G>A	XP_011516445.1:p.Trp339Ter
XM_011518144.1:c.1331G>A	XP_011516446.1:p.Trp444Ter
XM_011518145.1:c.875G>A	XP_011516447.1:p.Trp292Ter
XM_011518146.1:c.1016G>A	XP_011516448.1:p.Trp339Ter
XR_929703.1:n.1507G>A
NM_001353193.1:c.1331G>A	NP_001340122.1:p.Trp444Ter
NM_001353194.1:c.1103G>A	NP_001340123.1:p.Trp368Ter
NM_001353195.1:c.914G>A	NP_001340124.1:p.Trp305Ter
NM_001353196.1:c.1175G>A	NP_001340125.1:p.Trp392Ter
NM_001353197.1:c.1169G>A	NP_001340126.1:p.Trp390Ter
NM_001353198.1:c.1169G>A	NP_001340127.1:p.Trp390Ter
NM_001353199.1:c.980G>A	NP_001340128.1:p.Trp327Ter
NM_001353200.1:c.809G>A	NP_001340129.1:p.Trp270Ter
NR_148391.1:n.1315G>A
NR_148392.1:n.1533G>A
NR_148393.1:n.1315G>A
NR_148394.1:n.1208G>A
NR_148395.1:n.1467G>A
NR_148396.1:n.1101G>A
NR_148397.1:n.1365G>A
NR_148398.1:n.1320G>A
NR_148399.1:n.1707G>A
NR_148400.1:n.1306G>A
XM_005272162.3:c.134G>A	XP_005272219.1:p.Trp45Ter
XM_006716932.2:c.980G>A	XP_006716995.1:p.Trp327Ter
XM_011518140.2:c.1184G>A	XP_011516442.1:p.Trp395Ter
XM_011518141.2:c.1118G>A	XP_011516443.1:p.Trp373Ter
XM_011518142.2:c.1022G>A	XP_011516444.1:p.Trp341Ter
XM_011518143.2:c.1016G>A	XP_011516445.1:p.Trp339Ter
XM_011518145.2:c.875G>A	XP_011516447.1:p.Trp292Ter
XM_017014205.2:c.134G>A	XP_016869694.1:p.Trp45Ter
XM_024447380.1:c.134G>A	XP_024303148.1:p.Trp45Ter
XM_024447381.1:c.440G>A	XP_024303149.1:p.Trp147Ter
XM_024447382.1:c.134G>A	XP_024303150.1:p.Trp45Ter
XR_001746160.2:n.1435G>A
XR_001746162.2:n.1501G>A
XR_001746164.1:n.1218G>A
XR_001746166.2:n.1652G>A
NM_001077365.2:c.1265G>A MANE Select	NP_001070833.1:p.Trp422Ter
NM_001077366.2:c.1103G>A	NP_001070834.1:p.Trp368Ter
NM_001136113.2:c.1265G>A	NP_001129585.1:p.Trp422Ter
NM_001136114.2:c.914G>A	NP_001129586.1:p.Trp305Ter
NM_001353193.2:c.1331G>A	NP_001340122.2:p.Trp444Ter
NM_001353194.2:c.1103G>A	NP_001340123.1:p.Trp368Ter
NM_001353195.2:c.914G>A	NP_001340124.1:p.Trp305Ter
NM_001353196.2:c.1175G>A	NP_001340125.1:p.Trp392Ter
NM_001353197.2:c.1169G>A	NP_001340126.2:p.Trp390Ter
NM_001353198.2:c.1169G>A	NP_001340127.2:p.Trp390Ter
NM_001353199.2:c.980G>A	NP_001340128.2:p.Trp327Ter
NM_001353200.2:c.809G>A	NP_001340129.1:p.Trp270Ter
NM_001374689.1:c.1253G>A	NP_001361618.1:p.Trp418Ter
NM_001374690.1:c.1265G>A	NP_001361619.1:p.Trp422Ter
NM_001374691.1:c.914G>A	NP_001361620.1:p.Trp305Ter
NM_001374692.1:c.914G>A	NP_001361621.1:p.Trp305Ter
NM_001374693.1:c.914G>A	NP_001361622.1:p.Trp305Ter
NM_001374695.1:c.875G>A	NP_001361624.1:p.Trp292Ter
NM_007171.4:c.1331G>A	NP_009102.4:p.Trp444Ter
NR_148391.2:n.1299G>A
NR_148392.2:n.1517G>A
NR_148393.2:n.1299G>A
NR_148394.2:n.1192G>A
NR_148395.2:n.1451G>A
NR_148396.2:n.1085G>A
NR_148397.2:n.1349G>A
NR_148398.2:n.1304G>A
NR_148399.2:n.1691G>A
NR_148400.2:n.1290G>A

Linked Data

Genomic Alleles

Transcript Alleles