Canonical Allele Identifier: CA2682630831

Gene: NPC1L1

Linked Data

• gnomAD v4: 7-44541310-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541310G>A , CM000669.2:g.44541310G>A	GRCh38
NC_000007.13:g.44580909G>A , CM000669.1:g.44580909G>A	GRCh37
NC_000007.12:g.44547434G>A	NCBI36
NG_013088.1:g.5006C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381160.8:c.-51C>T MANE Select	ENSP00000370552.3:n.-51C>T
ENST00000289547.8:c.-51C>T	ENSP00000289547.4:n.-51C>T
ENST00000381160.7:c.-51C>T	ENSP00000370552.3:n.-51C>T
ENST00000423141.1:c.-51C>T	ENSP00000404670.1:n.-51C>T
ENST00000546276.5:c.-51C>T	ENSP00000438033.1:n.-51C>T
NM_001101648.1:c.-51C>T	NP_001095118.1:n.-51C>T
NM_001300967.1:c.-51C>T	NP_001287896.1:n.-51C>T
NM_013389.2:c.-51C>T	NP_037521.2:n.-51C>T
XM_011515326.1:c.-51C>T	XP_011513628.1:n.-51C>T
XM_011515327.1:c.-51C>T	XP_011513629.1:n.-51C>T
XM_011515326.3:c.-51C>T	XP_011513628.1:n.-51C>T
XR_002956423.1:n.342C>T
NM_001101648.2:c.-51C>T MANE Select	NP_001095118.1:n.-51C>T
NM_001300967.2:c.-51C>T	NP_001287896.1:n.-51C>T
NM_013389.3:c.-51C>T	NP_037521.2:n.-51C>T