Canonical Allele Identifier: CA1703812759
Gene: NPC1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44539266C= , CM000669.2:g.44539266C= GRCh38
NC_000007.13:g.44578865C= , CM000669.1:g.44578865C= GRCh37
NC_000007.12:g.44545390C= NCBI36
NG_013088.1:g.7050G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.1131G= MANE Select ENSP00000370552.3:p.Thr377=
ENST00000289547.8:c.1131G= ENSP00000289547.4:p.Thr377=
ENST00000381160.7:c.1131G= ENSP00000370552.3:p.Thr377=
ENST00000423141.1:c.1131G= ENSP00000404670.1:p.Thr377=
ENST00000546276.5:c.1131G= ENSP00000438033.1:p.Thr377=
NM_001101648.1:c.1131G= NP_001095118.1:p.Thr377=
NM_001300967.1:c.1131G= NP_001287896.1:p.Thr377=
NM_013389.2:c.1131G= NP_037521.2:p.Thr377=
XM_011515326.1:c.1131G= XP_011513628.1:p.Thr377=
XM_011515327.1:c.1131G= XP_011513629.1:p.Thr377=
XM_011515326.3:c.1131G= XP_011513628.1:p.Thr377=
XM_011515328.2:c.-237G= XP_011513630.1:n.-237G=
XR_002956423.1:n.1523G=
NM_001101648.2:c.1131G= MANE Select NP_001095118.1:p.Thr377=
NM_001300967.2:c.1131G= NP_001287896.1:p.Thr377=
NM_013389.3:c.1131G= NP_037521.2:p.Thr377=