Canonical Allele Identifier: CA1630834752

Gene: NPC1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44515974T= , CM000669.2:g.44515974T=	GRCh38
NC_000007.13:g.44555573T= , CM000669.1:g.44555573T=	GRCh37
NC_000007.12:g.44522098T=	NCBI36
NG_013088.1:g.30342A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001101648.2:c.3634-9A= MANE Select	NP_001095118.1:n.3634-9A=
ENST00000381160.8:c.3634-9A= MANE Select	ENSP00000370552.3:n.3634-9A=
NM_001101648.1:c.3634-9A=	NP_001095118.1:n.3634-9A=
NM_013389.2:c.3715-9A=	NP_037521.2:n.3715-9A=
NM_013389.3:c.3715-9A=	NP_037521.2:n.3715-9A=
ENST00000289547.8:c.3715-9A=	ENSP00000289547.4:n.3715-9A=
ENST00000381160.7:c.3634-9A=	ENSP00000370552.3:n.3634-9A=
ENST00000546276.5:c.3496-9A=	ENSP00000438033.1:n.3496-9A=
XM_011515326.1:c.3439-9A=	XP_011513628.1:n.3439-9A=
XM_011515326.3:c.3439-9A=	XP_011513628.1:n.3439-9A=
XM_011515328.1:c.1993-9A=	XP_011513630.1:n.1993-9A=
XM_011515328.2:c.1993-9A=	XP_011513630.1:n.1993-9A=