Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[11107506A>G;11107513C>G] , CM000681.2:g.[11107506A>G;11107513C>G]	GRCh38
NC_000019.9:g.[11218182A>G;11218189C>G] , CM000681.1:g.[11218182A>G;11218189C>G]	GRCh37
NC_000019.8:g.[11079182A>G;11079189C>G]	NCBI36
NG_009060.1:g.[23126A>G;23133C>G] , LRG_274:g.[23126A>G;23133C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.[1190A>G;1197C>G]	ENSP00000252444.6:p.[Lys397Arg;Cys399Trp]
ENST00000559340.2:c.[932A>G;939C>G]	ENSP00000453696.2:p.[Lys311Arg;Cys313Trp]
ENST00000560467.2:c.[932A>G;939C>G]	ENSP00000453513.2:p.[Lys311Arg;Cys313Trp]
ENST00000558518.6:c.[932A>G;939C>G] MANE Select	ENSP00000454071.1:p.[Lys311Arg;Cys313Trp]
ENST00000252444.9:c.[1186A>G;1193C>G]
ENST00000455727.6:c.[428A>G;435C>G]	ENSP00000397829.2:p.[Lys143Arg;Cys145Trp]
ENST00000535915.5:c.[809A>G;816C>G]	ENSP00000440520.1:p.[Lys270Arg;Cys272Trp]
ENST00000545707.5:c.[551A>G;558C>G]	ENSP00000437639.1:p.[Lys184Arg;Cys186Trp]
ENST00000557933.5:c.[932A>G;939C>G]	ENSP00000453557.1:p.[Lys311Arg;Cys313Trp]
ENST00000558013.5:c.[932A>G;939C>G]	ENSP00000453346.1:p.[Lys311Arg;Cys313Trp]
ENST00000558518.5:c.[932A>G;939C>G]	ENSP00000454071.1:p.[Lys311Arg;Cys313Trp]
ENST00000558528.1:n.[447A>G;454C>G]
ENST00000560467.1:c.[532A>G;539C>G]
NM_000527.4:c.[932A>G;939C>G] , LRG_274t1:c.[932A>G;939C>G]	NP_000518.1:p.[Lys311Arg;Cys313Trp]
NM_001195798.1:c.[932A>G;939C>G]	NP_001182727.1:p.[Lys311Arg;Cys313Trp]
NM_001195799.1:c.[809A>G;816C>G]	NP_001182728.1:p.[Lys270Arg;Cys272Trp]
NM_001195800.1:c.[428A>G;435C>G]	NP_001182729.1:p.[Lys143Arg;Cys145Trp]
NM_001195803.1:c.[551A>G;558C>G]	NP_001182732.1:p.[Lys184Arg;Cys186Trp]
XM_011528010.1:c.[932A>G;939C>G]	XP_011526312.1:p.[Lys311Arg;Cys313Trp]
XM_011528011.1:c.[551A>G;558C>G]	XP_011526313.1:p.[Lys184Arg;Cys186Trp]
XR_244074.2:n.[1082A>G;1089C>G]
XM_011528010.2:c.[932A>G;939C>G]	XP_011526312.1:p.[Lys311Arg;Cys313Trp]
XR_001753685.2:n.[1049A>G;1056C>G]
XR_001753686.2:n.[1049A>G;1056C>G]
NM_000527.5:c.[932A>G;939C>G] MANE Select	NP_000518.1:p.[Lys311Arg;Cys313Trp]
NM_001195798.2:c.[932A>G;939C>G]	NP_001182727.1:p.[Lys311Arg;Cys313Trp]
NM_001195799.2:c.[809A>G;816C>G]	NP_001182728.1:p.[Lys270Arg;Cys272Trp]
NM_001195800.2:c.[428A>G;435C>G]	NP_001182729.1:p.[Lys143Arg;Cys145Trp]
NM_001195803.2:c.[551A>G;558C>G]	NP_001182732.1:p.[Lys184Arg;Cys186Trp]