Canonical Allele Identifier: CA429912779

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927183C>G , CM000664.2:g.168927183C>G	GRCh38
NC_000002.11:g.169783693C>G , CM000664.1:g.169783693C>G	GRCh37
NC_000002.10:g.169491939C>G	NCBI36
NG_007374.1:g.109141G>C
NG_007374.2:g.109214G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3591G>C MANE Select	NP_003733.2:p.Leu1197=
ENST00000650372.1:c.3591G>C MANE Select	ENSP00000497931.1:p.Leu1197=
NM_003742.2:c.3591G>C	NP_003733.2:p.Leu1197=
ENST00000263817.6:c.3591G>C	ENSP00000263817.6:p.Leu1197=
ENST00000439188.1:c.2208G>C	ENSP00000416058.1:n.2208G>C
ENST00000648875.1:c.52G>C
ENST00000649448.1:c.1968G>C	ENSP00000497165.1:p.Leu656=
XM_006712817.2:c.3633G>C	XP_006712880.1:p.Leu1211=
XM_006712817.3:c.3633G>C	XP_006712880.1:p.Leu1211=
XM_011512077.1:c.3693G>C	XP_011510379.1:p.Leu1231=
XM_011512077.2:c.3693G>C	XP_011510379.1:p.Leu1231=
XM_011512078.1:c.3693G>C	XP_011510380.1:p.Leu1231=
XM_011512078.2:c.3693G>C	XP_011510380.1:p.Leu1231=
XM_011512079.1:c.3693G>C	XP_011510381.1:p.Leu1231=
XM_011512081.1:c.1917G>C	XP_011510383.1:p.Leu639=
XM_011512081.2:c.1917G>C	XP_011510383.1:p.Leu639=
XM_017005165.1:c.3693G>C	XP_016860654.1:p.Leu1231=
XM_017005166.1:c.2922G>C	XP_016860655.1:p.Leu974=
XM_017005167.1:c.2376G>C	XP_016860656.1:p.Leu792=