Canonical Allele Identifier: CA1951156

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168935354T>C , CM000664.2:g.168935354T>C	GRCh38
NC_000002.11:g.169791864T>C , CM000664.1:g.169791864T>C	GRCh37
NC_000002.10:g.169500110T>C	NCBI36
NG_007374.1:g.100970A>G
NG_007374.2:g.101043A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2886A>G MANE Select	NP_003733.2:p.Ala962=
ENST00000650372.1:c.2886A>G MANE Select	ENSP00000497931.1:p.Ala962=
NM_003742.2:c.2886A>G	NP_003733.2:p.Ala962=
ENST00000263817.6:c.2886A>G	ENSP00000263817.6:p.Ala962=
ENST00000439188.1:c.1575A>G	ENSP00000416058.1:n.1575A>G
ENST00000647920.1:c.53A>G
ENST00000649448.1:c.1203A>G	ENSP00000497165.1:p.Ala401=
XM_006712817.2:c.2928A>G	XP_006712880.1:p.Ala976=
XM_006712817.3:c.2928A>G	XP_006712880.1:p.Ala976=
XM_011512077.1:c.2988A>G	XP_011510379.1:p.Ala996=
XM_011512077.2:c.2988A>G	XP_011510379.1:p.Ala996=
XM_011512078.1:c.2988A>G	XP_011510380.1:p.Ala996=
XM_011512078.2:c.2988A>G	XP_011510380.1:p.Ala996=
XM_011512079.1:c.2988A>G	XP_011510381.1:p.Ala996=
XM_011512080.1:c.*97A>G	XP_011510382.1:n.*97A>G
XM_011512080.2:c.*97A>G	XP_011510382.1:n.*97A>G
XM_011512081.1:c.1212A>G	XP_011510383.1:p.Ala404=
XM_011512081.2:c.1212A>G	XP_011510383.1:p.Ala404=
XM_017005165.1:c.2988A>G	XP_016860654.1:p.Ala996=
XM_017005166.1:c.2217A>G	XP_016860655.1:p.Ala739=
XM_017005167.1:c.1671A>G	XP_016860656.1:p.Ala557=