Canonical Allele Identifier: CA349113981

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168970145G>A , CM000664.2:g.168970145G>A	GRCh38
NC_000002.11:g.169826655G>A , CM000664.1:g.169826655G>A	GRCh37
NC_000002.10:g.169534901G>A	NCBI36
NG_007374.1:g.66179C>T
NG_007374.2:g.66252C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1709C>T MANE Select	NP_003733.2:p.Ala570Val
ENST00000650372.1:c.1709C>T MANE Select	ENSP00000497931.1:p.Ala570Val
NM_003742.2:c.1709C>T	NP_003733.2:p.Ala570Val
ENST00000263817.6:c.1709C>T	ENSP00000263817.6:p.Ala570Val
ENST00000439188.1:c.398C>T	ENSP00000416058.1:n.398C>T
ENST00000478354.1:n.447C>T
ENST00000649448.1:c.26C>T	ENSP00000497165.1:p.Ala9Val
XM_006712817.2:c.1751C>T	XP_006712880.1:p.Ala584Val
XM_006712817.3:c.1751C>T	XP_006712880.1:p.Ala584Val
XM_011512077.1:c.1811C>T	XP_011510379.1:p.Ala604Val
XM_011512077.2:c.1811C>T	XP_011510379.1:p.Ala604Val
XM_011512078.1:c.1811C>T	XP_011510380.1:p.Ala604Val
XM_011512078.2:c.1811C>T	XP_011510380.1:p.Ala604Val
XM_011512079.1:c.1811C>T	XP_011510381.1:p.Ala604Val
XM_011512080.1:c.1811C>T	XP_011510382.1:p.Ala604Val
XM_011512080.2:c.1811C>T	XP_011510382.1:p.Ala604Val
XM_011512081.1:c.35C>T	XP_011510383.1:p.Ala12Val
XM_011512081.2:c.35C>T	XP_011510383.1:p.Ala12Val
XM_017005165.1:c.1811C>T	XP_016860654.1:p.Ala604Val
XM_017005166.1:c.1040C>T	XP_016860655.1:p.Ala347Val
XM_017005167.1:c.494C>T	XP_016860656.1:p.Ala165Val