Canonical Allele Identifier: CA367400293

Gene: NPC1L1

Linked Data

• gnomAD v4: 7-44541234-C-T
• MyVariant Identifiers: chr7:g.44580833C>T (hg19) ; chr7:g.44541234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541234C>T , CM000669.2:g.44541234C>T	GRCh38
NC_000007.13:g.44580833C>T , CM000669.1:g.44580833C>T	GRCh37
NC_000007.12:g.44547358C>T	NCBI36
NG_013088.1:g.5082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.26G>A MANE Select	ENSP00000370552.3:p.Trp9Ter
ENST00000289547.8:c.26G>A	ENSP00000289547.4:p.Trp9Ter
ENST00000381160.7:c.26G>A	ENSP00000370552.3:p.Trp9Ter
ENST00000423141.1:c.26G>A	ENSP00000404670.1:p.Trp9Ter
ENST00000546276.5:c.26G>A	ENSP00000438033.1:p.Trp9Ter
NM_001101648.1:c.26G>A	NP_001095118.1:p.Trp9Ter
NM_001300967.1:c.26G>A	NP_001287896.1:p.Trp9Ter
NM_013389.2:c.26G>A	NP_037521.2:p.Trp9Ter
XM_011515326.1:c.26G>A	XP_011513628.1:p.Trp9Ter
XM_011515327.1:c.26G>A	XP_011513629.1:p.Trp9Ter
XM_011515326.3:c.26G>A	XP_011513628.1:p.Trp9Ter
XR_002956423.1:n.418G>A
NM_001101648.2:c.26G>A MANE Select	NP_001095118.1:p.Trp9Ter
NM_001300967.2:c.26G>A	NP_001287896.1:p.Trp9Ter
NM_013389.3:c.26G>A	NP_037521.2:p.Trp9Ter