Canonical Allele Identifier: CA349122589

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932511T>G , CM000664.2:g.168932511T>G	GRCh38
NC_000002.11:g.169789021T>G , CM000664.1:g.169789021T>G	GRCh37
NC_000002.10:g.169497267T>G	NCBI36
NG_007374.1:g.103813A>C
NG_007374.2:g.103886A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3079A>C MANE Select	NP_003733.2:p.Ser1027Arg
ENST00000650372.1:c.3079A>C MANE Select	ENSP00000497931.1:p.Ser1027Arg
NM_003742.2:c.3079A>C	NP_003733.2:p.Ser1027Arg
ENST00000263817.6:c.3079A>C	ENSP00000263817.6:p.Ser1027Arg
ENST00000439188.1:c.1768A>C	ENSP00000416058.1:n.1768A>C
ENST00000647920.1:c.406A>C
ENST00000649448.1:c.1396A>C	ENSP00000497165.1:p.Ser466Arg
XM_006712817.2:c.3121A>C	XP_006712880.1:p.Ser1041Arg
XM_006712817.3:c.3121A>C	XP_006712880.1:p.Ser1041Arg
XM_011512077.1:c.3181A>C	XP_011510379.1:p.Ser1061Arg
XM_011512077.2:c.3181A>C	XP_011510379.1:p.Ser1061Arg
XM_011512078.1:c.3181A>C	XP_011510380.1:p.Ser1061Arg
XM_011512078.2:c.3181A>C	XP_011510380.1:p.Ser1061Arg
XM_011512079.1:c.3181A>C	XP_011510381.1:p.Ser1061Arg
XM_011512081.1:c.1405A>C	XP_011510383.1:p.Ser469Arg
XM_011512081.2:c.1405A>C	XP_011510383.1:p.Ser469Arg
XM_017005165.1:c.3181A>C	XP_016860654.1:p.Ser1061Arg
XM_017005166.1:c.2410A>C	XP_016860655.1:p.Ser804Arg
XM_017005167.1:c.1864A>C	XP_016860656.1:p.Ser622Arg