Canonical Allele Identifier: CA1951060

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168930808G>A , CM000664.2:g.168930808G>A	GRCh38
NC_000002.11:g.169787318G>A , CM000664.1:g.169787318G>A	GRCh37
NC_000002.10:g.169495564G>A	NCBI36
NG_007374.1:g.105516C>T
NG_007374.2:g.105589C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3268C>T MANE Select	NP_003733.2:p.Arg1090Ter
ENST00000650372.1:c.3268C>T MANE Select	ENSP00000497931.1:p.Arg1090Ter
NM_003742.2:c.3268C>T	NP_003733.2:p.Arg1090Ter
ENST00000263817.6:c.3268C>T	ENSP00000263817.6:p.Arg1090Ter
ENST00000439188.1:c.1957C>T	ENSP00000416058.1:n.1957C>T
ENST00000649448.1:c.1585C>T	ENSP00000497165.1:p.Arg529Ter
XM_006712817.2:c.3310C>T	XP_006712880.1:p.Arg1104Ter
XM_006712817.3:c.3310C>T	XP_006712880.1:p.Arg1104Ter
XM_011512077.1:c.3370C>T	XP_011510379.1:p.Arg1124Ter
XM_011512077.2:c.3370C>T	XP_011510379.1:p.Arg1124Ter
XM_011512078.1:c.3370C>T	XP_011510380.1:p.Arg1124Ter
XM_011512078.2:c.3370C>T	XP_011510380.1:p.Arg1124Ter
XM_011512079.1:c.3370C>T	XP_011510381.1:p.Arg1124Ter
XM_011512081.1:c.1594C>T	XP_011510383.1:p.Arg532Ter
XM_011512081.2:c.1594C>T	XP_011510383.1:p.Arg532Ter
XM_017005165.1:c.3370C>T	XP_016860654.1:p.Arg1124Ter
XM_017005166.1:c.2599C>T	XP_016860655.1:p.Arg867Ter
XM_017005167.1:c.2053C>T	XP_016860656.1:p.Arg685Ter