Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[11107403G>A;11113359T>C] , CM000681.2:g.[11107403G>A;11113359T>C]	GRCh38
NC_000019.9:g.[11218079G>A;11224035T>C] , CM000681.1:g.[11218079G>A;11224035T>C]	GRCh37
NC_000019.8:g.[11079079G>A;11085035T>C]	NCBI36
NG_009060.1:g.[23023G>A;28979T>C] , LRG_274:g.[23023G>A;28979T>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.[1087G>A;1526T>C]	ENSP00000252444.6:p.[Glu363Lys;Ile509Thr]
ENST00000559340.2:c.[829G>A;1268T>C]	ENSP00000453696.2:p.[Glu277Lys;Ile423Thr]
ENST00000560467.2:c.[829G>A;1148T>C]	ENSP00000453513.2:p.[Glu277Lys;Ile383Thr]
ENST00000558518.6:c.[829G>A;1268T>C] MANE Select	ENSP00000454071.1:p.[Glu277Lys;Ile423Thr]
ENST00000252444.9:c.[1083G>A;1522T>C]
ENST00000455727.6:c.[325G>A;764T>C]	ENSP00000397829.2:p.[Glu109Lys;Ile255Thr]
ENST00000535915.5:c.[706G>A;1145T>C]	ENSP00000440520.1:p.[Glu236Lys;Ile382Thr]
ENST00000545707.5:c.[448G>A;887T>C]	ENSP00000437639.1:p.[Glu150Lys;Ile296Thr]
ENST00000557933.5:c.[829G>A;1268T>C]	ENSP00000453557.1:p.[Glu277Lys;Ile423Thr]
ENST00000558013.5:c.[829G>A;1268T>C]	ENSP00000453346.1:p.[Glu277Lys;Ile423Thr]
ENST00000558518.5:c.[829G>A;1268T>C]	ENSP00000454071.1:p.[Glu277Lys;Ile423Thr]
ENST00000560467.1:c.[429G>A;748T>C]
NM_000527.4:c.[829G>A;1268T>C] , LRG_274t1:c.[829G>A;1268T>C]	NP_000518.1:p.[Glu277Lys;Ile423Thr]
NM_001195798.1:c.[829G>A;1268T>C]	NP_001182727.1:p.[Glu277Lys;Ile423Thr]
NM_001195799.1:c.[706G>A;1145T>C]	NP_001182728.1:p.[Glu236Lys;Ile382Thr]
NM_001195800.1:c.[325G>A;764T>C]	NP_001182729.1:p.[Glu109Lys;Ile255Thr]
NM_001195803.1:c.[448G>A;887T>C]	NP_001182732.1:p.[Glu150Lys;Ile296Thr]
XM_011528010.1:c.[829G>A;1268T>C]	XP_011526312.1:p.[Glu277Lys;Ile423Thr]
XM_011528011.1:c.[448G>A;887T>C]	XP_011526313.1:p.[Glu150Lys;Ile296Thr]
XR_244074.2:n.[979G>A;1418T>C]
XM_011528010.2:c.[829G>A;1268T>C]	XP_011526312.1:p.[Glu277Lys;Ile423Thr]
XR_001753685.2:n.[946G>A;1385T>C]
XR_001753686.2:n.[946G>A;1385T>C]
NM_000527.5:c.[829G>A;1268T>C] MANE Select	NP_000518.1:p.[Glu277Lys;Ile423Thr]
NM_001195798.2:c.[829G>A;1268T>C]	NP_001182727.1:p.[Glu277Lys;Ile423Thr]
NM_001195799.2:c.[706G>A;1145T>C]	NP_001182728.1:p.[Glu236Lys;Ile382Thr]
NM_001195800.2:c.[325G>A;764T>C]	NP_001182729.1:p.[Glu109Lys;Ile255Thr]
NM_001195803.2:c.[448G>A;887T>C]	NP_001182732.1:p.[Glu150Lys;Ile296Thr]