Canonical Allele Identifier: CA367400220

Gene: NPC1L1

Linked Data

• ClinVar Variation Id: 2302539
• ClinVar RCV Id: RCV004150424
• dbSNP Id: rs1025904545
• gnomAD v3: 7-44541222-G-T
• gnomAD v4: 7-44541222-G-T
• MyVariant Identifiers: chr7:g.44580821G>T (hg19) ; chr7:g.44541222G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541222G>T , CM000669.2:g.44541222G>T	GRCh38
NC_000007.13:g.44580821G>T , CM000669.1:g.44580821G>T	GRCh37
NC_000007.12:g.44547346G>T	NCBI36
NG_013088.1:g.5094C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.38C>A MANE Select	ENSP00000370552.3:p.Ala13Asp
ENST00000289547.8:c.38C>A	ENSP00000289547.4:p.Ala13Asp
ENST00000381160.7:c.38C>A	ENSP00000370552.3:p.Ala13Asp
ENST00000423141.1:c.38C>A	ENSP00000404670.1:p.Ala13Asp
ENST00000546276.5:c.38C>A	ENSP00000438033.1:p.Ala13Asp
NM_001101648.1:c.38C>A	NP_001095118.1:p.Ala13Asp
NM_001300967.1:c.38C>A	NP_001287896.1:p.Ala13Asp
NM_013389.2:c.38C>A	NP_037521.2:p.Ala13Asp
XM_011515326.1:c.38C>A	XP_011513628.1:p.Ala13Asp
XM_011515327.1:c.38C>A	XP_011513629.1:p.Ala13Asp
XM_011515326.3:c.38C>A	XP_011513628.1:p.Ala13Asp
XR_002956423.1:n.430C>A
NM_001101648.2:c.38C>A MANE Select	NP_001095118.1:p.Ala13Asp
NM_001300967.2:c.38C>A	NP_001287896.1:p.Ala13Asp
NM_013389.3:c.38C>A	NP_037521.2:p.Ala13Asp