Canonical Allele Identifier: CA454610319

Gene: NPC1L1

Linked Data

• gnomAD v4: 7-44541242-C-A
• MyVariant Identifiers: chr7:g.44580841C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541242C>A , CM000669.2:g.44541242C>A	GRCh38
NC_000007.13:g.44580841C>A , CM000669.1:g.44580841C>A	GRCh37
NC_000007.12:g.44547366C>A	NCBI36
NG_013088.1:g.5074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.18G>T MANE Select	ENSP00000370552.3:p.Leu6=
ENST00000289547.8:c.18G>T	ENSP00000289547.4:p.Leu6=
ENST00000381160.7:c.18G>T	ENSP00000370552.3:p.Leu6=
ENST00000423141.1:c.18G>T	ENSP00000404670.1:p.Leu6=
ENST00000546276.5:c.18G>T	ENSP00000438033.1:p.Leu6=
NM_001101648.1:c.18G>T	NP_001095118.1:p.Leu6=
NM_001300967.1:c.18G>T	NP_001287896.1:p.Leu6=
NM_013389.2:c.18G>T	NP_037521.2:p.Leu6=
XM_011515326.1:c.18G>T	XP_011513628.1:p.Leu6=
XM_011515327.1:c.18G>T	XP_011513629.1:p.Leu6=
XM_011515326.3:c.18G>T	XP_011513628.1:p.Leu6=
XR_002956423.1:n.410G>T
NM_001101648.2:c.18G>T MANE Select	NP_001095118.1:p.Leu6=
NM_001300967.2:c.18G>T	NP_001287896.1:p.Leu6=
NM_013389.3:c.18G>T	NP_037521.2:p.Leu6=