Canonical Allele Identifier: CA349116094

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168972025C>A , CM000664.2:g.168972025C>A	GRCh38
NC_000002.11:g.169828535C>A , CM000664.1:g.169828535C>A	GRCh37
NC_000002.10:g.169536781C>A	NCBI36
NG_007374.1:g.64299G>T
NG_007374.2:g.64372G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1460G>T MANE Select	NP_003733.2:p.Arg487Leu
ENST00000650372.1:c.1460G>T MANE Select	ENSP00000497931.1:p.Arg487Leu
NM_003742.2:c.1460G>T	NP_003733.2:p.Arg487Leu
ENST00000263817.6:c.1460G>T	ENSP00000263817.6:p.Arg487Leu
ENST00000439188.1:c.8G>T	ENSP00000416058.1:p.Arg3Leu
XM_006712817.2:c.1502G>T	XP_006712880.1:p.Arg501Leu
XM_006712817.3:c.1502G>T	XP_006712880.1:p.Arg501Leu
XM_011512077.1:c.1562G>T	XP_011510379.1:p.Arg521Leu
XM_011512077.2:c.1562G>T	XP_011510379.1:p.Arg521Leu
XM_011512078.1:c.1562G>T	XP_011510380.1:p.Arg521Leu
XM_011512078.2:c.1562G>T	XP_011510380.1:p.Arg521Leu
XM_011512079.1:c.1562G>T	XP_011510381.1:p.Arg521Leu
XM_011512080.1:c.1562G>T	XP_011510382.1:p.Arg521Leu
XM_011512080.2:c.1562G>T	XP_011510382.1:p.Arg521Leu
XM_011512081.1:c.-356G>T	XP_011510383.1:n.-356G>T
XM_011512081.2:c.-356G>T	XP_011510383.1:n.-356G>T
XM_017005165.1:c.1562G>T	XP_016860654.1:p.Arg521Leu
XM_017005166.1:c.791G>T	XP_016860655.1:p.Arg264Leu
XM_017005167.1:c.245G>T	XP_016860656.1:p.Arg82Leu