Canonical Allele Identifier: CA1703791578

Gene: NPC1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44516100A= , CM000669.2:g.44516100A=	GRCh38
NC_000007.13:g.44555699A= , CM000669.1:g.44555699A=	GRCh37
NC_000007.12:g.44522224A=	NCBI36
NG_013088.1:g.30216T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001101648.2:c.3617T= MANE Select	NP_001095118.1:p.Ile1206=
ENST00000381160.8:c.3617T= MANE Select	ENSP00000370552.3:p.Ile1206=
NM_001101648.1:c.3617T=	NP_001095118.1:p.Ile1206=
NM_013389.2:c.3698T=	NP_037521.2:p.Ile1233=
NM_013389.3:c.3698T=	NP_037521.2:p.Ile1233=
ENST00000289547.8:c.3698T=	ENSP00000289547.4:p.Ile1233=
ENST00000381160.7:c.3617T=	ENSP00000370552.3:p.Ile1206=
ENST00000546276.5:c.3479T=	ENSP00000438033.1:p.Ile1160=
XM_011515326.1:c.3422T=	XP_011513628.1:p.Ile1141=
XM_011515326.3:c.3422T=	XP_011513628.1:p.Ile1141=
XM_011515328.1:c.1976T=	XP_011513630.1:p.Ile659=
XM_011515328.2:c.1976T=	XP_011513630.1:p.Ile659=