Canonical Allele Identifier: CA1630834748

Gene: NPC1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44513639A= , CM000669.2:g.44513639A=	GRCh38
NC_000007.13:g.44553238A= , CM000669.1:g.44553238A=	GRCh37
NC_000007.12:g.44519763A=	NCBI36
NG_013088.1:g.32677T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001101648.2:c.3807T= MANE Select	NP_001095118.1:p.Val1269=
ENST00000381160.8:c.3807T= MANE Select	ENSP00000370552.3:p.Val1269=
NM_001101648.1:c.3807T=	NP_001095118.1:p.Val1269=
NM_013389.2:c.3888T=	NP_037521.2:p.Val1296=
NM_013389.3:c.3888T=	NP_037521.2:p.Val1296=
ENST00000289547.8:c.3888T=	ENSP00000289547.4:p.Val1296=
ENST00000381160.7:c.3807T=	ENSP00000370552.3:p.Val1269=
ENST00000546276.5:c.3669T=	ENSP00000438033.1:p.Val1223=
XM_011515326.1:c.3612T=	XP_011513628.1:p.Val1204=
XM_011515326.3:c.3612T=	XP_011513628.1:p.Val1204=
XM_011515328.1:c.2166T=	XP_011513630.1:p.Val722=
XM_011515328.2:c.2166T=	XP_011513630.1:p.Val722=