Canonical Allele Identifier: CA349113747

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168970094G>T , CM000664.2:g.168970094G>T	GRCh38
NC_000002.11:g.169826604G>T , CM000664.1:g.169826604G>T	GRCh37
NC_000002.10:g.169534850G>T	NCBI36
NG_007374.1:g.66230C>A
NG_007374.2:g.66303C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1760C>A MANE Select	NP_003733.2:p.Ser587Ter
ENST00000650372.1:c.1760C>A MANE Select	ENSP00000497931.1:p.Ser587Ter
NM_003742.2:c.1760C>A	NP_003733.2:p.Ser587Ter
ENST00000263817.6:c.1760C>A	ENSP00000263817.6:p.Ser587Ter
ENST00000439188.1:c.449C>A	ENSP00000416058.1:n.449C>A
ENST00000478354.1:n.498C>A
ENST00000649448.1:c.77C>A	ENSP00000497165.1:p.Ser26Ter
XM_006712817.2:c.1802C>A	XP_006712880.1:p.Ser601Ter
XM_006712817.3:c.1802C>A	XP_006712880.1:p.Ser601Ter
XM_011512077.1:c.1862C>A	XP_011510379.1:p.Ser621Ter
XM_011512077.2:c.1862C>A	XP_011510379.1:p.Ser621Ter
XM_011512078.1:c.1862C>A	XP_011510380.1:p.Ser621Ter
XM_011512078.2:c.1862C>A	XP_011510380.1:p.Ser621Ter
XM_011512079.1:c.1862C>A	XP_011510381.1:p.Ser621Ter
XM_011512080.1:c.1862C>A	XP_011510382.1:p.Ser621Ter
XM_011512080.2:c.1862C>A	XP_011510382.1:p.Ser621Ter
XM_011512081.1:c.86C>A	XP_011510383.1:p.Ser29Ter
XM_011512081.2:c.86C>A	XP_011510383.1:p.Ser29Ter
XM_017005165.1:c.1862C>A	XP_016860654.1:p.Ser621Ter
XM_017005166.1:c.1091C>A	XP_016860655.1:p.Ser364Ter
XM_017005167.1:c.545C>A	XP_016860656.1:p.Ser182Ter