Canonical Allele Identifier: CA349122443

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169788954G>A (hg19) ; chr2:g.168932444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932444G>A , CM000664.2:g.168932444G>A	GRCh38
NC_000002.11:g.169788954G>A , CM000664.1:g.169788954G>A	GRCh37
NC_000002.10:g.169497200G>A	NCBI36
NG_007374.1:g.103880C>T
NG_007374.2:g.103953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1463C>T	ENSP00000497165.1:p.Ala488Val
ENST00000650372.1:c.3146C>T MANE Select	ENSP00000497931.1:p.Ala1049Val
ENST00000263817.6:c.3146C>T	ENSP00000263817.6:p.Ala1049Val
ENST00000439188.1:c.1835C>T	ENSP00000416058.1:n.1835C>T
NM_003742.2:c.3146C>T	NP_003733.2:p.Ala1049Val
XM_006712817.2:c.3188C>T	XP_006712880.1:p.Ala1063Val
XM_011512077.1:c.3248C>T	XP_011510379.1:p.Ala1083Val
XM_011512078.1:c.3248C>T	XP_011510380.1:p.Ala1083Val
XM_011512079.1:c.3248C>T	XP_011510381.1:p.Ala1083Val
XM_011512081.1:c.1472C>T	XP_011510383.1:p.Ala491Val
NM_003742.4:c.3146C>T MANE Select	NP_003733.2:p.Ala1049Val
XM_006712817.3:c.3188C>T	XP_006712880.1:p.Ala1063Val
XM_011512077.2:c.3248C>T	XP_011510379.1:p.Ala1083Val
XM_011512078.2:c.3248C>T	XP_011510380.1:p.Ala1083Val
XM_011512081.2:c.1472C>T	XP_011510383.1:p.Ala491Val
XM_017005165.1:c.3248C>T	XP_016860654.1:p.Ala1083Val
XM_017005166.1:c.2477C>T	XP_016860655.1:p.Ala826Val
XM_017005167.1:c.1931C>T	XP_016860656.1:p.Ala644Val