Canonical Allele Identifier: CA349113726

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168970091G>C , CM000664.2:g.168970091G>C	GRCh38
NC_000002.11:g.169826601G>C , CM000664.1:g.169826601G>C	GRCh37
NC_000002.10:g.169534847G>C	NCBI36
NG_007374.1:g.66233C>G
NG_007374.2:g.66306C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1763C>G MANE Select	NP_003733.2:p.Ala588Gly
ENST00000650372.1:c.1763C>G MANE Select	ENSP00000497931.1:p.Ala588Gly
NM_003742.2:c.1763C>G	NP_003733.2:p.Ala588Gly
ENST00000263817.6:c.1763C>G	ENSP00000263817.6:p.Ala588Gly
ENST00000439188.1:c.452C>G	ENSP00000416058.1:n.452C>G
ENST00000478354.1:n.501C>G
ENST00000649448.1:c.80C>G	ENSP00000497165.1:p.Ala27Gly
XM_006712817.2:c.1805C>G	XP_006712880.1:p.Ala602Gly
XM_006712817.3:c.1805C>G	XP_006712880.1:p.Ala602Gly
XM_011512077.1:c.1865C>G	XP_011510379.1:p.Ala622Gly
XM_011512077.2:c.1865C>G	XP_011510379.1:p.Ala622Gly
XM_011512078.1:c.1865C>G	XP_011510380.1:p.Ala622Gly
XM_011512078.2:c.1865C>G	XP_011510380.1:p.Ala622Gly
XM_011512079.1:c.1865C>G	XP_011510381.1:p.Ala622Gly
XM_011512080.1:c.1865C>G	XP_011510382.1:p.Ala622Gly
XM_011512080.2:c.1865C>G	XP_011510382.1:p.Ala622Gly
XM_011512081.1:c.89C>G	XP_011510383.1:p.Ala30Gly
XM_011512081.2:c.89C>G	XP_011510383.1:p.Ala30Gly
XM_017005165.1:c.1865C>G	XP_016860654.1:p.Ala622Gly
XM_017005166.1:c.1094C>G	XP_016860655.1:p.Ala365Gly
XM_017005167.1:c.548C>G	XP_016860656.1:p.Ala183Gly