Canonical Allele Identifier: CA349126597

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801215C>A (hg19) ; chr2:g.168944705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944705C>A , CM000664.2:g.168944705C>A	GRCh38
NC_000002.11:g.169801215C>A , CM000664.1:g.169801215C>A	GRCh37
NC_000002.10:g.169509461C>A	NCBI36
NG_007374.1:g.91619G>T
NG_007374.2:g.91692G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.827G>T	ENSP00000497165.1:p.Arg276Met
ENST00000650372.1:c.2510G>T MANE Select	ENSP00000497931.1:p.Arg837Met
ENST00000263817.6:c.2510G>T	ENSP00000263817.6:p.Arg837Met
ENST00000439188.1:c.1199G>T	ENSP00000416058.1:n.1199G>T
NM_003742.2:c.2510G>T	NP_003733.2:p.Arg837Met
XM_006712817.2:c.2552G>T	XP_006712880.1:p.Arg851Met
XM_011512077.1:c.2612G>T	XP_011510379.1:p.Arg871Met
XM_011512078.1:c.2612G>T	XP_011510380.1:p.Arg871Met
XM_011512079.1:c.2612G>T	XP_011510381.1:p.Arg871Met
XM_011512080.1:c.2612G>T	XP_011510382.1:p.Arg871Met
XM_011512081.1:c.836G>T	XP_011510383.1:p.Arg279Met
NM_003742.4:c.2510G>T MANE Select	NP_003733.2:p.Arg837Met
XM_006712817.3:c.2552G>T	XP_006712880.1:p.Arg851Met
XM_011512077.2:c.2612G>T	XP_011510379.1:p.Arg871Met
XM_011512078.2:c.2612G>T	XP_011510380.1:p.Arg871Met
XM_011512080.2:c.2612G>T	XP_011510382.1:p.Arg871Met
XM_011512081.2:c.836G>T	XP_011510383.1:p.Arg279Met
XM_017005165.1:c.2612G>T	XP_016860654.1:p.Arg871Met
XM_017005166.1:c.1841G>T	XP_016860655.1:p.Arg614Met
XM_017005167.1:c.1295G>T	XP_016860656.1:p.Arg432Met