Canonical Allele Identifier: CA1951372

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168964307C>G , CM000664.2:g.168964307C>G	GRCh38
NC_000002.11:g.169820817C>G , CM000664.1:g.169820817C>G	GRCh37
NC_000002.10:g.169529063C>G	NCBI36
NG_007374.1:g.72017G>C
NG_007374.2:g.72090G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2077G>C MANE Select	NP_003733.2:p.Ala693Pro
ENST00000650372.1:c.2077G>C MANE Select	ENSP00000497931.1:p.Ala693Pro
NM_003742.2:c.2077G>C	NP_003733.2:p.Ala693Pro
ENST00000263817.6:c.2077G>C	ENSP00000263817.6:p.Ala693Pro
ENST00000439188.1:c.766G>C	ENSP00000416058.1:n.766G>C
ENST00000649448.1:c.394G>C	ENSP00000497165.1:p.Ala132Pro
XM_006712817.2:c.2119G>C	XP_006712880.1:p.Ala707Pro
XM_006712817.3:c.2119G>C	XP_006712880.1:p.Ala707Pro
XM_011512077.1:c.2179G>C	XP_011510379.1:p.Ala727Pro
XM_011512077.2:c.2179G>C	XP_011510379.1:p.Ala727Pro
XM_011512078.1:c.2179G>C	XP_011510380.1:p.Ala727Pro
XM_011512078.2:c.2179G>C	XP_011510380.1:p.Ala727Pro
XM_011512079.1:c.2179G>C	XP_011510381.1:p.Ala727Pro
XM_011512080.1:c.2179G>C	XP_011510382.1:p.Ala727Pro
XM_011512080.2:c.2179G>C	XP_011510382.1:p.Ala727Pro
XM_011512081.1:c.403G>C	XP_011510383.1:p.Ala135Pro
XM_011512081.2:c.403G>C	XP_011510383.1:p.Ala135Pro
XM_017005165.1:c.2179G>C	XP_016860654.1:p.Ala727Pro
XM_017005166.1:c.1408G>C	XP_016860655.1:p.Ala470Pro
XM_017005167.1:c.862G>C	XP_016860656.1:p.Ala288Pro