Canonical Allele Identifier: CA349126898

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801240T>A (hg19) ; chr2:g.168944730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944730T>A , CM000664.2:g.168944730T>A	GRCh38
NC_000002.11:g.169801240T>A , CM000664.1:g.169801240T>A	GRCh37
NC_000002.10:g.169509486T>A	NCBI36
NG_007374.1:g.91594A>T
NG_007374.2:g.91667A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.802A>T	ENSP00000497165.1:p.Lys268Ter
ENST00000650372.1:c.2485A>T MANE Select	ENSP00000497931.1:p.Lys829Ter
ENST00000263817.6:c.2485A>T	ENSP00000263817.6:p.Lys829Ter
ENST00000439188.1:c.1174A>T	ENSP00000416058.1:n.1174A>T
NM_003742.2:c.2485A>T	NP_003733.2:p.Lys829Ter
XM_006712817.2:c.2527A>T	XP_006712880.1:p.Lys843Ter
XM_011512077.1:c.2587A>T	XP_011510379.1:p.Lys863Ter
XM_011512078.1:c.2587A>T	XP_011510380.1:p.Lys863Ter
XM_011512079.1:c.2587A>T	XP_011510381.1:p.Lys863Ter
XM_011512080.1:c.2587A>T	XP_011510382.1:p.Lys863Ter
XM_011512081.1:c.811A>T	XP_011510383.1:p.Lys271Ter
NM_003742.4:c.2485A>T MANE Select	NP_003733.2:p.Lys829Ter
XM_006712817.3:c.2527A>T	XP_006712880.1:p.Lys843Ter
XM_011512077.2:c.2587A>T	XP_011510379.1:p.Lys863Ter
XM_011512078.2:c.2587A>T	XP_011510380.1:p.Lys863Ter
XM_011512080.2:c.2587A>T	XP_011510382.1:p.Lys863Ter
XM_011512081.2:c.811A>T	XP_011510383.1:p.Lys271Ter
XM_017005165.1:c.2587A>T	XP_016860654.1:p.Lys863Ter
XM_017005166.1:c.1816A>T	XP_016860655.1:p.Lys606Ter
XM_017005167.1:c.1270A>T	XP_016860656.1:p.Lys424Ter