Canonical Allele Identifier: CA349116753

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923642T>C , CM000664.2:g.168923642T>C	GRCh38
NC_000002.11:g.169780152T>C , CM000664.1:g.169780152T>C	GRCh37
NC_000002.10:g.169488398T>C	NCBI36
NG_007374.1:g.112682A>G
NG_007374.2:g.112755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1015A>G
ENST00000649448.1:c.2323A>G	ENSP00000497165.1:p.Thr775Ala
ENST00000650372.1:c.3946A>G MANE Select	ENSP00000497931.1:p.Thr1316Ala
ENST00000263817.6:c.3946A>G	ENSP00000263817.6:p.Thr1316Ala
ENST00000439188.1:c.2563A>G	ENSP00000416058.1:n.2563A>G
NM_003742.2:c.3946A>G	NP_003733.2:p.Thr1316Ala
XM_006712817.2:c.3988A>G	XP_006712880.1:p.Thr1330Ala
XM_011512077.1:c.4048A>G	XP_011510379.1:p.Thr1350Ala
XM_011512078.1:c.4048A>G	XP_011510380.1:p.Thr1350Ala
XM_011512079.1:c.4048A>G	XP_011510381.1:p.Thr1350Ala
XM_011512081.1:c.2272A>G	XP_011510383.1:p.Thr758Ala
NM_003742.4:c.3946A>G MANE Select	NP_003733.2:p.Thr1316Ala
XM_006712817.3:c.3988A>G	XP_006712880.1:p.Thr1330Ala
XM_011512077.2:c.4048A>G	XP_011510379.1:p.Thr1350Ala
XM_011512078.2:c.4048A>G	XP_011510380.1:p.Thr1350Ala
XM_011512081.2:c.2272A>G	XP_011510383.1:p.Thr758Ala
XM_017005165.1:c.3867+1015A>G	XP_016860654.1:n.3867+1015A>G
XM_017005166.1:c.3277A>G	XP_016860655.1:p.Thr1093Ala
XM_017005167.1:c.2731A>G	XP_016860656.1:p.Thr911Ala