Canonical Allele Identifier: CA429913126

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169788956A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932446A>T , CM000664.2:g.168932446A>T	GRCh38
NC_000002.11:g.169788956A>T , CM000664.1:g.169788956A>T	GRCh37
NC_000002.10:g.169497202A>T	NCBI36
NG_007374.1:g.103878T>A
NG_007374.2:g.103951T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1461T>A	ENSP00000497165.1:p.Ala487=
ENST00000650372.1:c.3144T>A MANE Select	ENSP00000497931.1:p.Ala1048=
ENST00000263817.6:c.3144T>A	ENSP00000263817.6:p.Ala1048=
ENST00000439188.1:c.1833T>A	ENSP00000416058.1:n.1833T>A
NM_003742.2:c.3144T>A	NP_003733.2:p.Ala1048=
XM_006712817.2:c.3186T>A	XP_006712880.1:p.Ala1062=
XM_011512077.1:c.3246T>A	XP_011510379.1:p.Ala1082=
XM_011512078.1:c.3246T>A	XP_011510380.1:p.Ala1082=
XM_011512079.1:c.3246T>A	XP_011510381.1:p.Ala1082=
XM_011512081.1:c.1470T>A	XP_011510383.1:p.Ala490=
NM_003742.4:c.3144T>A MANE Select	NP_003733.2:p.Ala1048=
XM_006712817.3:c.3186T>A	XP_006712880.1:p.Ala1062=
XM_011512077.2:c.3246T>A	XP_011510379.1:p.Ala1082=
XM_011512078.2:c.3246T>A	XP_011510380.1:p.Ala1082=
XM_011512081.2:c.1470T>A	XP_011510383.1:p.Ala490=
XM_017005165.1:c.3246T>A	XP_016860654.1:p.Ala1082=
XM_017005166.1:c.2475T>A	XP_016860655.1:p.Ala825=
XM_017005167.1:c.1929T>A	XP_016860656.1:p.Ala643=