Allele Registry

Canonical Allele Identifier: CA4241450

Gene: NPC1L1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.44515974T>G

GRCh37 chr7:g.44555573T>G

Linked Data - Sequence & Population

gnomAD v2:

7:44555573 T / G

gnomAD v3:

7:44515974 T / G

gnomAD v4:

chr7-44515974-T-G

Joint Max Group AF 0.29402437 (AFR)

Genomes Max Group AF 0.28989172 (AFR)

Exomes Max Group AF 0.29610448 (AFR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000455683

ClinVar Variation:

403257

dbSNP:

217428

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44515974T>G , CM000669.2:g.44515974T>G	GRCh38
NC_000007.13:g.44555573T>G , CM000669.1:g.44555573T>G	GRCh37
NC_000007.12:g.44522098T>G	NCBI36
NG_013088.1:g.30342A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.3634-9A>C MANE Select	ENSP00000370552.3:n.3634-9A>C
ENST00000289547.8:c.3715-9A>C	ENSP00000289547.4:n.3715-9A>C
ENST00000381160.7:c.3634-9A>C	ENSP00000370552.3:n.3634-9A>C
ENST00000546276.5:c.3496-9A>C	ENSP00000438033.1:n.3496-9A>C
NM_001101648.1:c.3634-9A>C	NP_001095118.1:n.3634-9A>C
NM_013389.2:c.3715-9A>C	NP_037521.2:n.3715-9A>C
XM_011515326.1:c.3439-9A>C	XP_011513628.1:n.3439-9A>C
XM_011515328.1:c.1993-9A>C	XP_011513630.1:n.1993-9A>C
XM_011515326.3:c.3439-9A>C	XP_011513628.1:n.3439-9A>C
XM_011515328.2:c.1993-9A>C	XP_011513630.1:n.1993-9A>C
NM_001101648.2:c.3634-9A>C MANE Select	NP_001095118.1:n.3634-9A>C
NM_013389.3:c.3715-9A>C	NP_037521.2:n.3715-9A>C

Search 100 bp 5'

Search 100 bp 3'