Canonical Allele Identifier: CA367395147

Gene: NPC1L1

Linked Data

• gnomAD v4: 7-44539261-G-A
• COSMIC: COSM313331
• MyVariant Identifiers: chr7:g.44578860G>A (hg19) ; chr7:g.44539261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539261G>A , CM000669.2:g.44539261G>A	GRCh38
NC_000007.13:g.44578860G>A , CM000669.1:g.44578860G>A	GRCh37
NC_000007.12:g.44545385G>A	NCBI36
NG_013088.1:g.7055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.1136C>T MANE Select	ENSP00000370552.3:p.Pro379Leu
ENST00000289547.8:c.1136C>T	ENSP00000289547.4:p.Pro379Leu
ENST00000381160.7:c.1136C>T	ENSP00000370552.3:p.Pro379Leu
ENST00000423141.1:c.1136C>T	ENSP00000404670.1:p.Pro379Leu
ENST00000546276.5:c.1136C>T	ENSP00000438033.1:p.Pro379Leu
NM_001101648.1:c.1136C>T	NP_001095118.1:p.Pro379Leu
NM_001300967.1:c.1136C>T	NP_001287896.1:p.Pro379Leu
NM_013389.2:c.1136C>T	NP_037521.2:p.Pro379Leu
XM_011515326.1:c.1136C>T	XP_011513628.1:p.Pro379Leu
XM_011515327.1:c.1136C>T	XP_011513629.1:p.Pro379Leu
XM_011515326.3:c.1136C>T	XP_011513628.1:p.Pro379Leu
XM_011515328.2:c.-232C>T	XP_011513630.1:n.-232C>T
XR_002956423.1:n.1528C>T
NM_001101648.2:c.1136C>T MANE Select	NP_001095118.1:p.Pro379Leu
NM_001300967.2:c.1136C>T	NP_001287896.1:p.Pro379Leu
NM_013389.3:c.1136C>T	NP_037521.2:p.Pro379Leu