Canonical Allele Identifier: CA59867824

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923776A>T , CM000664.2:g.168923776A>T	GRCh38
NC_000002.11:g.169780286A>T , CM000664.1:g.169780286A>T	GRCh37
NC_000002.10:g.169488532A>T	NCBI36
NG_007374.1:g.112548T>A
NG_007374.2:g.112621T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3812T>A MANE Select	NP_003733.2:p.Ile1271Asn
ENST00000650372.1:c.3812T>A MANE Select	ENSP00000497931.1:p.Ile1271Asn
NM_003742.2:c.3812T>A	NP_003733.2:p.Ile1271Asn
ENST00000263817.6:c.3812T>A	ENSP00000263817.6:p.Ile1271Asn
ENST00000439188.1:c.2429T>A	ENSP00000416058.1:n.2429T>A
ENST00000648875.1:c.226+881T>A
ENST00000649448.1:c.2189T>A	ENSP00000497165.1:p.Ile730Asn
XM_006712817.2:c.3854T>A	XP_006712880.1:p.Ile1285Asn
XM_006712817.3:c.3854T>A	XP_006712880.1:p.Ile1285Asn
XM_011512077.1:c.3914T>A	XP_011510379.1:p.Ile1305Asn
XM_011512077.2:c.3914T>A	XP_011510379.1:p.Ile1305Asn
XM_011512078.1:c.3914T>A	XP_011510380.1:p.Ile1305Asn
XM_011512078.2:c.3914T>A	XP_011510380.1:p.Ile1305Asn
XM_011512079.1:c.3914T>A	XP_011510381.1:p.Ile1305Asn
XM_011512081.1:c.2138T>A	XP_011510383.1:p.Ile713Asn
XM_011512081.2:c.2138T>A	XP_011510383.1:p.Ile713Asn
XM_017005165.1:c.3867+881T>A	XP_016860654.1:n.3867+881T>A
XM_017005166.1:c.3143T>A	XP_016860655.1:p.Ile1048Asn
XM_017005167.1:c.2597T>A	XP_016860656.1:p.Ile866Asn