Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515518G>A , CM000671.2:g.131515518G>A	GRCh38
NC_000009.11:g.134390905G>A , CM000671.1:g.134390905G>A	GRCh37
NC_000009.10:g.133380726G>A	NCBI36
NG_008896.1:g.17617G>A
NG_008896.2:g.17617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1106G>A	ENSP00000343034.7:p.Arg369Lys
ENST00000404875.7:n.1808G>A
ENST00000423007.6:c.1325G>A	ENSP00000404119.2:p.Arg442Lys
ENST00000677295.2:c.*1612G>A	ENSP00000504346.2:n.*1612G>A
ENST00000678264.2:c.*1451G>A	ENSP00000503157.2:n.*1451G>A
ENST00000682070.1:n.1733G>A
ENST00000682539.1:c.93G>A
ENST00000682813.1:n.1533G>A
ENST00000683392.1:n.4015G>A
ENST00000683712.1:n.1673G>A
ENST00000683900.1:n.3168G>A
ENST00000684062.1:n.1934G>A
ENST00000684579.1:n.3114G>A
ENST00000341012.12:c.1106G>A	ENSP00000343034.7:p.Arg369Lys
ENST00000372220.5:c.137G>A	ENSP00000361294.5:p.Arg46Lys
ENST00000372228.9:c.1334G>A	ENSP00000361302.3:p.Arg445Lys
ENST00000402686.8:c.1268G>A MANE Select	ENSP00000385797.4:p.Arg423Lys
ENST00000676640.1:c.1268G>A	ENSP00000503281.1:p.Arg423Lys
ENST00000676803.1:c.443G>A	ENSP00000503093.1:p.Arg148Lys
ENST00000676835.1:c.*483G>A	ENSP00000502911.1:n.*483G>A
ENST00000677029.1:c.812G>A	ENSP00000502936.1:p.Arg271Lys
ENST00000677099.1:c.*978G>A	ENSP00000504553.1:n.*978G>A
ENST00000677216.1:c.917G>A	ENSP00000503772.1:p.Arg306Lys
ENST00000677295.1:c.*645G>A	ENSP00000504346.1:n.*645G>A
ENST00000677444.1:c.1074G>A
ENST00000677586.1:n.749G>A
ENST00000677626.1:c.917G>A	ENSP00000503552.1:p.Arg306Lys
ENST00000677677.1:n.1228G>A
ENST00000677853.1:c.*276G>A	ENSP00000503488.1:n.*276G>A
ENST00000677944.1:c.530G>A
ENST00000678264.1:c.*645G>A	ENSP00000503157.1:n.*645G>A
ENST00000678303.1:c.1178G>A	ENSP00000503696.1:p.Arg393Lys
ENST00000678366.1:c.*1517G>A	ENSP00000504353.1:n.*1517G>A
ENST00000678546.1:c.*1213G>A	ENSP00000503062.1:n.*1213G>A
ENST00000678548.1:c.*1340G>A	ENSP00000503934.1:n.*1340G>A
ENST00000678626.1:n.965G>A
ENST00000678733.1:c.349G>A
ENST00000678739.1:c.*1594G>A	ENSP00000503806.1:n.*1594G>A
ENST00000678795.1:n.355G>A
ENST00000678833.1:c.*715G>A	ENSP00000503893.1:n.*715G>A
ENST00000678942.1:c.448G>A	ENSP00000504690.1:n.448G>A
ENST00000679023.1:c.1106G>A	ENSP00000503718.1:p.Arg369Lys
ENST00000679076.1:c.887G>A
ENST00000679111.1:c.1268G>A	ENSP00000504257.1:p.Arg423Lys
ENST00000679189.1:c.917G>A	ENSP00000503356.1:p.Arg306Lys
ENST00000341012.11:c.1106G>A	ENSP00000343034.7:p.Arg369Lys
ENST00000372228.7:c.1334G>A	ENSP00000361302.3:p.Arg445Lys
ENST00000402686.7:c.1268G>A	ENSP00000385797.3:p.Arg423Lys
ENST00000404875.6:c.917G>A	ENSP00000384531.2:p.Arg306Lys
ENST00000423007.5:c.1268G>A	ENSP00000404119.1:p.Arg423Lys
ENST00000485278.5:n.1823G>A
NM_001077365.1:c.1268G>A	NP_001070833.1:p.Arg423Lys
NM_001077366.1:c.1106G>A	NP_001070834.1:p.Arg369Lys
NM_001136113.1:c.1268G>A	NP_001129585.1:p.Arg423Lys
NM_001136114.1:c.917G>A	NP_001129586.1:p.Arg306Lys
NM_007171.3:c.1334G>A	NP_009102.3:p.Arg445Lys
XM_005272156.1:c.1334G>A	XP_005272213.1:p.Arg445Lys
XM_005272158.1:c.1172G>A	XP_005272215.1:p.Arg391Lys
XM_005272159.1:c.983G>A	XP_005272216.1:p.Arg328Lys
XM_005272162.1:c.137G>A	XP_005272219.1:p.Arg46Lys
XM_006716932.1:c.983G>A	XP_006716995.1:p.Arg328Lys
XM_011518140.1:c.1187G>A	XP_011516442.1:p.Arg396Lys
XM_011518141.1:c.1121G>A	XP_011516443.1:p.Arg374Lys
XM_011518142.1:c.1025G>A	XP_011516444.1:p.Arg342Lys
XM_011518143.1:c.1019G>A	XP_011516445.1:p.Arg340Lys
XM_011518144.1:c.1334G>A	XP_011516446.1:p.Arg445Lys
XM_011518145.1:c.878G>A	XP_011516447.1:p.Arg293Lys
XM_011518146.1:c.1019G>A	XP_011516448.1:p.Arg340Lys
XR_929703.1:n.1510G>A
NM_001353193.1:c.1334G>A	NP_001340122.1:p.Arg445Lys
NM_001353194.1:c.1106G>A	NP_001340123.1:p.Arg369Lys
NM_001353195.1:c.917G>A	NP_001340124.1:p.Arg306Lys
NM_001353196.1:c.1178G>A	NP_001340125.1:p.Arg393Lys
NM_001353197.1:c.1172G>A	NP_001340126.1:p.Arg391Lys
NM_001353198.1:c.1172G>A	NP_001340127.1:p.Arg391Lys
NM_001353199.1:c.983G>A	NP_001340128.1:p.Arg328Lys
NM_001353200.1:c.812G>A	NP_001340129.1:p.Arg271Lys
NR_148391.1:n.1318G>A
NR_148392.1:n.1536G>A
NR_148393.1:n.1318G>A
NR_148394.1:n.1211G>A
NR_148395.1:n.1470G>A
NR_148396.1:n.1104G>A
NR_148397.1:n.1368G>A
NR_148398.1:n.1323G>A
NR_148399.1:n.1710G>A
NR_148400.1:n.1309G>A
XM_005272162.3:c.137G>A	XP_005272219.1:p.Arg46Lys
XM_006716932.2:c.983G>A	XP_006716995.1:p.Arg328Lys
XM_011518140.2:c.1187G>A	XP_011516442.1:p.Arg396Lys
XM_011518141.2:c.1121G>A	XP_011516443.1:p.Arg374Lys
XM_011518142.2:c.1025G>A	XP_011516444.1:p.Arg342Lys
XM_011518143.2:c.1019G>A	XP_011516445.1:p.Arg340Lys
XM_011518145.2:c.878G>A	XP_011516447.1:p.Arg293Lys
XM_017014205.2:c.137G>A	XP_016869694.1:p.Arg46Lys
XM_024447380.1:c.137G>A	XP_024303148.1:p.Arg46Lys
XM_024447381.1:c.443G>A	XP_024303149.1:p.Arg148Lys
XM_024447382.1:c.137G>A	XP_024303150.1:p.Arg46Lys
XR_001746160.2:n.1438G>A
XR_001746162.2:n.1504G>A
XR_001746164.1:n.1221G>A
XR_001746166.2:n.1655G>A
NM_001077365.2:c.1268G>A MANE Select	NP_001070833.1:p.Arg423Lys
NM_001077366.2:c.1106G>A	NP_001070834.1:p.Arg369Lys
NM_001136113.2:c.1268G>A	NP_001129585.1:p.Arg423Lys
NM_001136114.2:c.917G>A	NP_001129586.1:p.Arg306Lys
NM_001353193.2:c.1334G>A	NP_001340122.2:p.Arg445Lys
NM_001353194.2:c.1106G>A	NP_001340123.1:p.Arg369Lys
NM_001353195.2:c.917G>A	NP_001340124.1:p.Arg306Lys
NM_001353196.2:c.1178G>A	NP_001340125.1:p.Arg393Lys
NM_001353197.2:c.1172G>A	NP_001340126.2:p.Arg391Lys
NM_001353198.2:c.1172G>A	NP_001340127.2:p.Arg391Lys
NM_001353199.2:c.983G>A	NP_001340128.2:p.Arg328Lys
NM_001353200.2:c.812G>A	NP_001340129.1:p.Arg271Lys
NM_001374689.1:c.1256G>A	NP_001361618.1:p.Arg419Lys
NM_001374690.1:c.1268G>A	NP_001361619.1:p.Arg423Lys
NM_001374691.1:c.917G>A	NP_001361620.1:p.Arg306Lys
NM_001374692.1:c.917G>A	NP_001361621.1:p.Arg306Lys
NM_001374693.1:c.917G>A	NP_001361622.1:p.Arg306Lys
NM_001374695.1:c.878G>A	NP_001361624.1:p.Arg293Lys
NM_007171.4:c.1334G>A	NP_009102.4:p.Arg445Lys
NR_148391.2:n.1302G>A
NR_148392.2:n.1520G>A
NR_148393.2:n.1302G>A
NR_148394.2:n.1195G>A
NR_148395.2:n.1454G>A
NR_148396.2:n.1088G>A
NR_148397.2:n.1352G>A
NR_148398.2:n.1307G>A
NR_148399.2:n.1694G>A
NR_148400.2:n.1293G>A

Linked Data

Genomic Alleles

Transcript Alleles