Canonical Allele Identifier: CA8912979

Gene: NPC1

Linked Data

• ClinVar Variation Id: 552715
• ClinVar RCV Id: RCV000668027
• dbSNP Id: rs753768576
• ExAC: 18:21119790 G / A
• gnomAD v2: 18-21119790-G-A
• gnomAD v4: 18-23539826-G-A
• COSMIC: COSM1388028 ; COSM5097254
• MyVariant Identifiers: chr18:g.21119790G>A (hg19) ; chr18:g.23539826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23539826G>A , CM000680.2:g.23539826G>A	GRCh38
NC_000018.9:g.21119790G>A , CM000680.1:g.21119790G>A	GRCh37
NC_000018.8:g.19373788G>A	NCBI36
NG_012795.1:g.51792C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2780C>T MANE Select	ENSP00000269228.4:p.Ala927Val
ENST00000269228.9:c.2780C>T	ENSP00000269228.4:p.Ala927Val
ENST00000540608.5:n.2694C>T
ENST00000586718.1:n.571C>T
ENST00000591051.1:c.1858C>T
ENST00000591075.1:n.73C>T
NM_000271.4:c.2780C>T	NP_000262.2:p.Ala927Val
XM_005258277.1:c.2831C>T	XP_005258334.1:p.Ala944Val
XM_005258278.3:c.2831C>T	XP_005258335.1:p.Ala944Val
XM_005258279.1:c.2780C>T	XP_005258336.1:p.Ala927Val
XM_006722479.2:c.2831C>T	XP_006722542.1:p.Ala944Val
XM_011526015.1:c.2366C>T	XP_011524317.1:p.Ala789Val
XM_005258278.5:c.2831C>T	XP_005258335.1:p.Ala944Val
XM_005258279.2:c.2780C>T	XP_005258336.1:p.Ala927Val
XM_006722479.3:c.2831C>T	XP_006722542.1:p.Ala944Val
XM_017025784.1:c.2831C>T	XP_016881273.1:p.Ala944Val
XM_017025785.1:c.2831C>T	XP_016881274.1:p.Ala944Val
XM_017025786.1:c.2780C>T	XP_016881275.1:p.Ala927Val
XM_017025787.1:c.2780C>T	XP_016881276.1:p.Ala927Val
NM_000271.5:c.2780C>T MANE Select	NP_000262.2:p.Ala927Val