Canonical Allele Identifier: CA349122079

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168930843A>T , CM000664.2:g.168930843A>T	GRCh38
NC_000002.11:g.169787353A>T , CM000664.1:g.169787353A>T	GRCh37
NC_000002.10:g.169495599A>T	NCBI36
NG_007374.1:g.105481T>A
NG_007374.2:g.105554T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3233T>A MANE Select	NP_003733.2:p.Ile1078Asn
ENST00000650372.1:c.3233T>A MANE Select	ENSP00000497931.1:p.Ile1078Asn
NM_003742.2:c.3233T>A	NP_003733.2:p.Ile1078Asn
ENST00000263817.6:c.3233T>A	ENSP00000263817.6:p.Ile1078Asn
ENST00000439188.1:c.1922T>A	ENSP00000416058.1:n.1922T>A
ENST00000649448.1:c.1550T>A	ENSP00000497165.1:p.Ile517Asn
XM_006712817.2:c.3275T>A	XP_006712880.1:p.Ile1092Asn
XM_006712817.3:c.3275T>A	XP_006712880.1:p.Ile1092Asn
XM_011512077.1:c.3335T>A	XP_011510379.1:p.Ile1112Asn
XM_011512077.2:c.3335T>A	XP_011510379.1:p.Ile1112Asn
XM_011512078.1:c.3335T>A	XP_011510380.1:p.Ile1112Asn
XM_011512078.2:c.3335T>A	XP_011510380.1:p.Ile1112Asn
XM_011512079.1:c.3335T>A	XP_011510381.1:p.Ile1112Asn
XM_011512081.1:c.1559T>A	XP_011510383.1:p.Ile520Asn
XM_011512081.2:c.1559T>A	XP_011510383.1:p.Ile520Asn
XM_017005165.1:c.3335T>A	XP_016860654.1:p.Ile1112Asn
XM_017005166.1:c.2564T>A	XP_016860655.1:p.Ile855Asn
XM_017005167.1:c.2018T>A	XP_016860656.1:p.Ile673Asn