Canonical Allele Identifier: CA1703812908

Gene: NPC1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539581G= , CM000669.2:g.44539581G=	GRCh38
NC_000007.13:g.44579180G= , CM000669.1:g.44579180G=	GRCh37
NC_000007.12:g.44545705G=	NCBI36
NG_013088.1:g.6735C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001101648.2:c.816C= MANE Select	NP_001095118.1:p.Leu272=
ENST00000381160.8:c.816C= MANE Select	ENSP00000370552.3:p.Leu272=
NM_001101648.1:c.816C=	NP_001095118.1:p.Leu272=
NM_001300967.1:c.816C=	NP_001287896.1:p.Leu272=
NM_001300967.2:c.816C=	NP_001287896.1:p.Leu272=
NM_013389.2:c.816C=	NP_037521.2:p.Leu272=
NM_013389.3:c.816C=	NP_037521.2:p.Leu272=
ENST00000289547.8:c.816C=	ENSP00000289547.4:p.Leu272=
ENST00000381160.7:c.816C=	ENSP00000370552.3:p.Leu272=
ENST00000423141.1:c.816C=	ENSP00000404670.1:p.Leu272=
ENST00000546276.5:c.816C=	ENSP00000438033.1:p.Leu272=
XM_011515326.1:c.816C=	XP_011513628.1:p.Leu272=
XM_011515326.3:c.816C=	XP_011513628.1:p.Leu272=
XM_011515327.1:c.816C=	XP_011513629.1:p.Leu272=
XM_011515328.2:c.-552C=	XP_011513630.1:n.-552C=
XR_002956423.1:n.1208C=