Canonical Allele Identifier: CA349106719

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168957991A>C , CM000664.2:g.168957991A>C	GRCh38
NC_000002.11:g.169814501A>C , CM000664.1:g.169814501A>C	GRCh37
NC_000002.10:g.169522747A>C	NCBI36
NG_007374.1:g.78333T>G
NG_007374.2:g.78406T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2316T>G MANE Select	NP_003733.2:p.Tyr772Ter
ENST00000650372.1:c.2316T>G MANE Select	ENSP00000497931.1:p.Tyr772Ter
NM_003742.2:c.2316T>G	NP_003733.2:p.Tyr772Ter
ENST00000263817.6:c.2316T>G	ENSP00000263817.6:p.Tyr772Ter
ENST00000439188.1:c.1005T>G	ENSP00000416058.1:n.1005T>G
ENST00000649448.1:c.633T>G	ENSP00000497165.1:p.Tyr211Ter
XM_006712817.2:c.2358T>G	XP_006712880.1:p.Tyr786Ter
XM_006712817.3:c.2358T>G	XP_006712880.1:p.Tyr786Ter
XM_011512077.1:c.2418T>G	XP_011510379.1:p.Tyr806Ter
XM_011512077.2:c.2418T>G	XP_011510379.1:p.Tyr806Ter
XM_011512078.1:c.2418T>G	XP_011510380.1:p.Tyr806Ter
XM_011512078.2:c.2418T>G	XP_011510380.1:p.Tyr806Ter
XM_011512079.1:c.2418T>G	XP_011510381.1:p.Tyr806Ter
XM_011512080.1:c.2418T>G	XP_011510382.1:p.Tyr806Ter
XM_011512080.2:c.2418T>G	XP_011510382.1:p.Tyr806Ter
XM_011512081.1:c.642T>G	XP_011510383.1:p.Tyr214Ter
XM_011512081.2:c.642T>G	XP_011510383.1:p.Tyr214Ter
XM_017005165.1:c.2418T>G	XP_016860654.1:p.Tyr806Ter
XM_017005166.1:c.1647T>G	XP_016860655.1:p.Tyr549Ter
XM_017005167.1:c.1101T>G	XP_016860656.1:p.Tyr367Ter