Canonical Allele Identifier: CA1951531

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168971863A>G , CM000664.2:g.168971863A>G	GRCh38
NC_000002.11:g.169828373A>G , CM000664.1:g.169828373A>G	GRCh37
NC_000002.10:g.169536619A>G	NCBI36
NG_007374.1:g.64461T>C
NG_007374.2:g.64534T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1622T>C MANE Select	NP_003733.2:p.Ile541Thr
ENST00000650372.1:c.1622T>C MANE Select	ENSP00000497931.1:p.Ile541Thr
NM_003742.2:c.1622T>C	NP_003733.2:p.Ile541Thr
ENST00000263817.6:c.1622T>C	ENSP00000263817.6:p.Ile541Thr
ENST00000439188.1:c.170T>C	ENSP00000416058.1:p.Ile57Thr
XM_006712817.2:c.1664T>C	XP_006712880.1:p.Ile555Thr
XM_006712817.3:c.1664T>C	XP_006712880.1:p.Ile555Thr
XM_011512077.1:c.1724T>C	XP_011510379.1:p.Ile575Thr
XM_011512077.2:c.1724T>C	XP_011510379.1:p.Ile575Thr
XM_011512078.1:c.1724T>C	XP_011510380.1:p.Ile575Thr
XM_011512078.2:c.1724T>C	XP_011510380.1:p.Ile575Thr
XM_011512079.1:c.1724T>C	XP_011510381.1:p.Ile575Thr
XM_011512080.1:c.1724T>C	XP_011510382.1:p.Ile575Thr
XM_011512080.2:c.1724T>C	XP_011510382.1:p.Ile575Thr
XM_011512081.1:c.-194T>C	XP_011510383.1:n.-194T>C
XM_011512081.2:c.-194T>C	XP_011510383.1:n.-194T>C
XM_017005165.1:c.1724T>C	XP_016860654.1:p.Ile575Thr
XM_017005166.1:c.953T>C	XP_016860655.1:p.Ile318Thr
XM_017005167.1:c.407T>C	XP_016860656.1:p.Ile136Thr