Canonical Allele Identifier: CA573810253

Gene: NPC1L1

Linked Data

• dbSNP Id: rs41279633
• gnomAD v2: 7-44580876-G-A
• gnomAD v3: 7-44541277-G-A
• gnomAD v4: 7-44541277-G-A
• MyVariant Identifiers: chr7:g.44580876G>A (hg19) ; chr7:g.44541277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541277G>A , CM000669.2:g.44541277G>A	GRCh38
NC_000007.13:g.44580876G>A , CM000669.1:g.44580876G>A	GRCh37
NC_000007.12:g.44547401G>A	NCBI36
NG_013088.1:g.5039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.-18C>T MANE Select	ENSP00000370552.3:n.-18C>T
ENST00000289547.8:c.-18C>T	ENSP00000289547.4:n.-18C>T
ENST00000381160.7:c.-18C>T	ENSP00000370552.3:n.-18C>T
ENST00000423141.1:c.-18C>T	ENSP00000404670.1:n.-18C>T
ENST00000546276.5:c.-18C>T	ENSP00000438033.1:n.-18C>T
NM_001101648.1:c.-18C>T	NP_001095118.1:n.-18C>T
NM_001300967.1:c.-18C>T	NP_001287896.1:n.-18C>T
NM_013389.2:c.-18C>T	NP_037521.2:n.-18C>T
XM_011515326.1:c.-18C>T	XP_011513628.1:n.-18C>T
XM_011515327.1:c.-18C>T	XP_011513629.1:n.-18C>T
XM_011515326.3:c.-18C>T	XP_011513628.1:n.-18C>T
XR_002956423.1:n.375C>T
NM_001101648.2:c.-18C>T MANE Select	NP_001095118.1:n.-18C>T
NM_001300967.2:c.-18C>T	NP_001287896.1:n.-18C>T
NM_013389.3:c.-18C>T	NP_037521.2:n.-18C>T