Canonical Allele Identifier: CA349126202

Gene: ABCB11

Linked Data

• COSMIC: COSM259271
• MyVariant Identifiers: chr2:g.169801156A>C (hg19) ; chr2:g.168944646A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944646A>C , CM000664.2:g.168944646A>C	GRCh38
NC_000002.11:g.169801156A>C , CM000664.1:g.169801156A>C	GRCh37
NC_000002.10:g.169509402A>C	NCBI36
NG_007374.1:g.91678T>G
NG_007374.2:g.91751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.886T>G	ENSP00000497165.1:p.Leu296Val
ENST00000650372.1:c.2569T>G MANE Select	ENSP00000497931.1:p.Leu857Val
ENST00000263817.6:c.2569T>G	ENSP00000263817.6:p.Leu857Val
ENST00000439188.1:c.1258T>G	ENSP00000416058.1:n.1258T>G
NM_003742.2:c.2569T>G	NP_003733.2:p.Leu857Val
XM_006712817.2:c.2611T>G	XP_006712880.1:p.Leu871Val
XM_011512077.1:c.2671T>G	XP_011510379.1:p.Leu891Val
XM_011512078.1:c.2671T>G	XP_011510380.1:p.Leu891Val
XM_011512079.1:c.2671T>G	XP_011510381.1:p.Leu891Val
XM_011512080.1:c.2671T>G	XP_011510382.1:p.Leu891Val
XM_011512081.1:c.895T>G	XP_011510383.1:p.Leu299Val
NM_003742.4:c.2569T>G MANE Select	NP_003733.2:p.Leu857Val
XM_006712817.3:c.2611T>G	XP_006712880.1:p.Leu871Val
XM_011512077.2:c.2671T>G	XP_011510379.1:p.Leu891Val
XM_011512078.2:c.2671T>G	XP_011510380.1:p.Leu891Val
XM_011512080.2:c.2671T>G	XP_011510382.1:p.Leu891Val
XM_011512081.2:c.895T>G	XP_011510383.1:p.Leu299Val
XM_017005165.1:c.2671T>G	XP_016860654.1:p.Leu891Val
XM_017005166.1:c.1900T>G	XP_016860655.1:p.Leu634Val
XM_017005167.1:c.1354T>G	XP_016860656.1:p.Leu452Val