Canonical Allele Identifier: CA297015
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 181458
ClinVar RCV Id: RCV000671618
dbSNP Id: rs374526072
gnomAD v2: 18-21115645-C-T
gnomAD v4: 18-23535681-C-T
COSMIC: COSM1611120
MyVariant Identifiers: chr18:g.21115645C>T (hg19) chr18:g.23535681C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23535681C>T , CM000680.2:g.23535681C>T GRCh38
NC_000018.9:g.21115645C>T , CM000680.1:g.21115645C>T GRCh37
NC_000018.8:g.19369643C>T NCBI36
NG_012795.1:g.55937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.3265G>A MANE Select ENSP00000269228.4:p.Glu1089Lys
ENST00000269228.9:c.3265G>A ENSP00000269228.4:p.Glu1089Lys
ENST00000586150.5:c.20G>A
ENST00000588867.1:n.20G>A
ENST00000591051.1:c.2343G>A
NM_000271.4:c.3265G>A NP_000262.2:p.Glu1089Lys
XM_005258277.1:c.3316G>A XP_005258334.1:p.Glu1106Lys
XM_005258278.3:c.3316G>A XP_005258335.1:p.Glu1106Lys
XM_005258279.1:c.3265G>A XP_005258336.1:p.Glu1089Lys
XM_006722479.2:c.3316G>A XP_006722542.1:p.Glu1106Lys
XM_011526015.1:c.2851G>A XP_011524317.1:p.Glu951Lys
XM_005258278.5:c.3316G>A XP_005258335.1:p.Glu1106Lys
XM_005258279.2:c.3265G>A XP_005258336.1:p.Glu1089Lys
XM_006722479.3:c.3316G>A XP_006722542.1:p.Glu1106Lys
XM_017025784.1:c.3316G>A XP_016881273.1:p.Glu1106Lys
XM_017025785.1:c.3316G>A XP_016881274.1:p.Glu1106Lys
XM_017025786.1:c.3265G>A XP_016881275.1:p.Glu1089Lys
XM_017025787.1:c.3265G>A XP_016881276.1:p.Glu1089Lys
NM_000271.5:c.3265G>A MANE Select NP_000262.2:p.Glu1089Lys
Search 100 bp 5'
Search 100 bp 3'