Canonical Allele Identifier: CA1951553

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168971992A>G , CM000664.2:g.168971992A>G	GRCh38
NC_000002.11:g.169828502A>G , CM000664.1:g.169828502A>G	GRCh37
NC_000002.10:g.169536748A>G	NCBI36
NG_007374.1:g.64332T>C
NG_007374.2:g.64405T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1493T>C MANE Select	NP_003733.2:p.Ile498Thr
ENST00000650372.1:c.1493T>C MANE Select	ENSP00000497931.1:p.Ile498Thr
NM_003742.2:c.1493T>C	NP_003733.2:p.Ile498Thr
ENST00000263817.6:c.1493T>C	ENSP00000263817.6:p.Ile498Thr
ENST00000439188.1:c.41T>C	ENSP00000416058.1:p.Ile14Thr
XM_006712817.2:c.1535T>C	XP_006712880.1:p.Ile512Thr
XM_006712817.3:c.1535T>C	XP_006712880.1:p.Ile512Thr
XM_011512077.1:c.1595T>C	XP_011510379.1:p.Ile532Thr
XM_011512077.2:c.1595T>C	XP_011510379.1:p.Ile532Thr
XM_011512078.1:c.1595T>C	XP_011510380.1:p.Ile532Thr
XM_011512078.2:c.1595T>C	XP_011510380.1:p.Ile532Thr
XM_011512079.1:c.1595T>C	XP_011510381.1:p.Ile532Thr
XM_011512080.1:c.1595T>C	XP_011510382.1:p.Ile532Thr
XM_011512080.2:c.1595T>C	XP_011510382.1:p.Ile532Thr
XM_011512081.1:c.-323T>C	XP_011510383.1:n.-323T>C
XM_011512081.2:c.-323T>C	XP_011510383.1:n.-323T>C
XM_017005165.1:c.1595T>C	XP_016860654.1:p.Ile532Thr
XM_017005166.1:c.824T>C	XP_016860655.1:p.Ile275Thr
XM_017005167.1:c.278T>C	XP_016860656.1:p.Ile93Thr