Canonical Allele Identifier: CA8912945

Gene: NPC1

Linked Data

• ClinVar Variation Id: 326255
• ClinVar RCV Id: RCV000373056
• dbSNP Id: rs780019300
• ExAC: 18:21119398 G / A
• gnomAD v2: 18-21119398-G-A
• gnomAD v3: 18-23539434-G-A
• gnomAD v4: 18-23539434-G-A
• MyVariant Identifiers: chr18:g.21119398G>A (hg19) ; chr18:g.23539434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539434G>A , CM000680.2:g.23539434G>A	GRCh38
NC_000018.9:g.21119398G>A , CM000680.1:g.21119398G>A	GRCh37
NC_000018.8:g.19373396G>A	NCBI36
NG_012795.1:g.52184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2832C>T MANE Select	ENSP00000269228.4:p.Asp944=
ENST00000269228.9:c.2832C>T	ENSP00000269228.4:p.Asp944=
ENST00000591051.1:c.1910C>T
ENST00000591075.1:n.465C>T
NM_000271.4:c.2832C>T	NP_000262.2:p.Asp944=
XM_005258277.1:c.2883C>T	XP_005258334.1:p.Asp961=
XM_005258278.3:c.2883C>T	XP_005258335.1:p.Asp961=
XM_005258279.1:c.2832C>T	XP_005258336.1:p.Asp944=
XM_006722479.2:c.2883C>T	XP_006722542.1:p.Asp961=
XM_011526015.1:c.2418C>T	XP_011524317.1:p.Asp806=
XM_005258278.5:c.2883C>T	XP_005258335.1:p.Asp961=
XM_005258279.2:c.2832C>T	XP_005258336.1:p.Asp944=
XM_006722479.3:c.2883C>T	XP_006722542.1:p.Asp961=
XM_017025784.1:c.2883C>T	XP_016881273.1:p.Asp961=
XM_017025785.1:c.2883C>T	XP_016881274.1:p.Asp961=
XM_017025786.1:c.2832C>T	XP_016881275.1:p.Asp944=
XM_017025787.1:c.2832C>T	XP_016881276.1:p.Asp944=
NM_000271.5:c.2832C>T MANE Select	NP_000262.2:p.Asp944=