Canonical Allele Identifier: CA349118433

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924798A>T , CM000664.2:g.168924798A>T	GRCh38
NC_000002.11:g.169781308A>T , CM000664.1:g.169781308A>T	GRCh37
NC_000002.10:g.169489554A>T	NCBI36
NG_007374.1:g.111526T>A
NG_007374.2:g.111599T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3624T>A MANE Select	NP_003733.2:p.Tyr1208Ter
ENST00000650372.1:c.3624T>A MANE Select	ENSP00000497931.1:p.Tyr1208Ter
NM_003742.2:c.3624T>A	NP_003733.2:p.Tyr1208Ter
ENST00000263817.6:c.3624T>A	ENSP00000263817.6:p.Tyr1208Ter
ENST00000439188.1:c.2241T>A	ENSP00000416058.1:n.2241T>A
ENST00000648875.1:c.85T>A
ENST00000649448.1:c.2001T>A	ENSP00000497165.1:p.Tyr667Ter
XM_006712817.2:c.3666T>A	XP_006712880.1:p.Tyr1222Ter
XM_006712817.3:c.3666T>A	XP_006712880.1:p.Tyr1222Ter
XM_011512077.1:c.3726T>A	XP_011510379.1:p.Tyr1242Ter
XM_011512077.2:c.3726T>A	XP_011510379.1:p.Tyr1242Ter
XM_011512078.1:c.3726T>A	XP_011510380.1:p.Tyr1242Ter
XM_011512078.2:c.3726T>A	XP_011510380.1:p.Tyr1242Ter
XM_011512079.1:c.3726T>A	XP_011510381.1:p.Tyr1242Ter
XM_011512081.1:c.1950T>A	XP_011510383.1:p.Tyr650Ter
XM_011512081.2:c.1950T>A	XP_011510383.1:p.Tyr650Ter
XM_017005165.1:c.3726T>A	XP_016860654.1:p.Tyr1242Ter
XM_017005166.1:c.2955T>A	XP_016860655.1:p.Tyr985Ter
XM_017005167.1:c.2409T>A	XP_016860656.1:p.Tyr803Ter