Canonical Allele Identifier: CA1951365

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168964283A>G , CM000664.2:g.168964283A>G	GRCh38
NC_000002.11:g.169820793A>G , CM000664.1:g.169820793A>G	GRCh37
NC_000002.10:g.169529039A>G	NCBI36
NG_007374.1:g.72041T>C
NG_007374.2:g.72114T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2101T>C MANE Select	NP_003733.2:p.Ser701Pro
ENST00000650372.1:c.2101T>C MANE Select	ENSP00000497931.1:p.Ser701Pro
NM_003742.2:c.2101T>C	NP_003733.2:p.Ser701Pro
ENST00000263817.6:c.2101T>C	ENSP00000263817.6:p.Ser701Pro
ENST00000439188.1:c.790T>C	ENSP00000416058.1:n.790T>C
ENST00000649448.1:c.418T>C	ENSP00000497165.1:p.Ser140Pro
XM_006712817.2:c.2143T>C	XP_006712880.1:p.Ser715Pro
XM_006712817.3:c.2143T>C	XP_006712880.1:p.Ser715Pro
XM_011512077.1:c.2203T>C	XP_011510379.1:p.Ser735Pro
XM_011512077.2:c.2203T>C	XP_011510379.1:p.Ser735Pro
XM_011512078.1:c.2203T>C	XP_011510380.1:p.Ser735Pro
XM_011512078.2:c.2203T>C	XP_011510380.1:p.Ser735Pro
XM_011512079.1:c.2203T>C	XP_011510381.1:p.Ser735Pro
XM_011512080.1:c.2203T>C	XP_011510382.1:p.Ser735Pro
XM_011512080.2:c.2203T>C	XP_011510382.1:p.Ser735Pro
XM_011512081.1:c.427T>C	XP_011510383.1:p.Ser143Pro
XM_011512081.2:c.427T>C	XP_011510383.1:p.Ser143Pro
XM_017005165.1:c.2203T>C	XP_016860654.1:p.Ser735Pro
XM_017005166.1:c.1432T>C	XP_016860655.1:p.Ser478Pro
XM_017005167.1:c.886T>C	XP_016860656.1:p.Ser296Pro