Canonical Allele Identifier: CA573810269

Gene: NPC1L1

Linked Data

• dbSNP Id: rs1293680551
• gnomAD v2: 7-44580894-C-G
• gnomAD v4: 7-44541295-C-G
• MyVariant Identifiers: chr7:g.44580894C>G (hg19) ; chr7:g.44541295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541295C>G , CM000669.2:g.44541295C>G	GRCh38
NC_000007.13:g.44580894C>G , CM000669.1:g.44580894C>G	GRCh37
NC_000007.12:g.44547419C>G	NCBI36
NG_013088.1:g.5021G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381160.8:c.-36G>C MANE Select	ENSP00000370552.3:n.-36G>C
ENST00000289547.8:c.-36G>C	ENSP00000289547.4:n.-36G>C
ENST00000381160.7:c.-36G>C	ENSP00000370552.3:n.-36G>C
ENST00000423141.1:c.-36G>C	ENSP00000404670.1:n.-36G>C
ENST00000546276.5:c.-36G>C	ENSP00000438033.1:n.-36G>C
NM_001101648.1:c.-36G>C	NP_001095118.1:n.-36G>C
NM_001300967.1:c.-36G>C	NP_001287896.1:n.-36G>C
NM_013389.2:c.-36G>C	NP_037521.2:n.-36G>C
XM_011515326.1:c.-36G>C	XP_011513628.1:n.-36G>C
XM_011515327.1:c.-36G>C	XP_011513629.1:n.-36G>C
XM_011515326.3:c.-36G>C	XP_011513628.1:n.-36G>C
XR_002956423.1:n.357G>C
NM_001101648.2:c.-36G>C MANE Select	NP_001095118.1:n.-36G>C
NM_001300967.2:c.-36G>C	NP_001287896.1:n.-36G>C
NM_013389.3:c.-36G>C	NP_037521.2:n.-36G>C