Canonical Allele Identifier: CA349118415

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924794T>G , CM000664.2:g.168924794T>G	GRCh38
NC_000002.11:g.169781304T>G , CM000664.1:g.169781304T>G	GRCh37
NC_000002.10:g.169489550T>G	NCBI36
NG_007374.1:g.111530A>C
NG_007374.2:g.111603A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.89A>C
ENST00000649448.1:c.2005A>C	ENSP00000497165.1:p.Thr669Pro
ENST00000650372.1:c.3628A>C MANE Select	ENSP00000497931.1:p.Thr1210Pro
ENST00000263817.6:c.3628A>C	ENSP00000263817.6:p.Thr1210Pro
ENST00000439188.1:c.2245A>C	ENSP00000416058.1:n.2245A>C
NM_003742.2:c.3628A>C	NP_003733.2:p.Thr1210Pro
XM_006712817.2:c.3670A>C	XP_006712880.1:p.Thr1224Pro
XM_011512077.1:c.3730A>C	XP_011510379.1:p.Thr1244Pro
XM_011512078.1:c.3730A>C	XP_011510380.1:p.Thr1244Pro
XM_011512079.1:c.3730A>C	XP_011510381.1:p.Thr1244Pro
XM_011512081.1:c.1954A>C	XP_011510383.1:p.Thr652Pro
NM_003742.4:c.3628A>C MANE Select	NP_003733.2:p.Thr1210Pro
XM_006712817.3:c.3670A>C	XP_006712880.1:p.Thr1224Pro
XM_011512077.2:c.3730A>C	XP_011510379.1:p.Thr1244Pro
XM_011512078.2:c.3730A>C	XP_011510380.1:p.Thr1244Pro
XM_011512081.2:c.1954A>C	XP_011510383.1:p.Thr652Pro
XM_017005165.1:c.3730A>C	XP_016860654.1:p.Thr1244Pro
XM_017005166.1:c.2959A>C	XP_016860655.1:p.Thr987Pro
XM_017005167.1:c.2413A>C	XP_016860656.1:p.Thr805Pro