Canonical Allele Identifier: CA628677774

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2915701
• ClinVar RCV Id: RCV003606971
• dbSNP Id: rs1195640488
• gnomAD v2: 18-21118486-G-T
• gnomAD v4: 18-23538522-G-T
• MyVariant Identifiers: chr18:g.21118486G>T (hg19) ; chr18:g.23538522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538522G>T , CM000680.2:g.23538522G>T	GRCh38
NC_000018.9:g.21118486G>T , CM000680.1:g.21118486G>T	GRCh37
NC_000018.8:g.19372484G>T	NCBI36
NG_012795.1:g.53096C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3041+20C>A MANE Select	ENSP00000269228.4:n.3041+20C>A
ENST00000269228.9:c.3041+20C>A	ENSP00000269228.4:n.3041+20C>A
ENST00000591051.1:c.2119+20C>A
ENST00000591075.1:n.674+20C>A
ENST00000591955.1:n.384+20C>A
NM_000271.4:c.3041+20C>A	NP_000262.2:n.3041+20C>A
XM_005258277.1:c.3092+20C>A	XP_005258334.1:n.3092+20C>A
XM_005258278.3:c.3092+20C>A	XP_005258335.1:n.3092+20C>A
XM_005258279.1:c.3041+20C>A	XP_005258336.1:n.3041+20C>A
XM_006722479.2:c.3092+20C>A	XP_006722542.1:n.3092+20C>A
XM_011526015.1:c.2627+20C>A	XP_011524317.1:n.2627+20C>A
XM_005258278.5:c.3092+20C>A	XP_005258335.1:n.3092+20C>A
XM_005258279.2:c.3041+20C>A	XP_005258336.1:n.3041+20C>A
XM_006722479.3:c.3092+20C>A	XP_006722542.1:n.3092+20C>A
XM_017025784.1:c.3092+20C>A	XP_016881273.1:n.3092+20C>A
XM_017025785.1:c.3092+20C>A	XP_016881274.1:n.3092+20C>A
XM_017025786.1:c.3041+20C>A	XP_016881275.1:n.3041+20C>A
XM_017025787.1:c.3041+20C>A	XP_016881276.1:n.3041+20C>A
NM_000271.5:c.3041+20C>A MANE Select	NP_000262.2:n.3041+20C>A