Canonical Allele Identifier: CA8913242

Gene: NPC1

Linked Data

• ClinVar Variation Id: 370601
• ClinVar RCV Id: RCV000411001 ; RCV002469141 ; RCV003409564
• dbSNP Id: rs376213990
• ExAC: 18:21124448 C / T
• gnomAD v2: 18-21124448-C-T
• gnomAD v3: 18-23544484-C-T
• gnomAD v4: 18-23544484-C-T
• COSMIC: COSM4071515
• MyVariant Identifiers: chr18:g.21124448C>T (hg19) ; chr18:g.23544484C>T (hg38)
• PubMed: PMID:12955717 ; PMID:16098014 ; PMID:20718790 ; PMID:25236789 ; PMID:26937389

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544484C>T , CM000680.2:g.23544484C>T	GRCh38
NC_000018.9:g.21124448C>T , CM000680.1:g.21124448C>T	GRCh37
NC_000018.8:g.19378446C>T	NCBI36
NG_012795.1:g.47134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1990G>A MANE Select	ENSP00000269228.4:p.Val664Met
ENST00000269228.9:c.1990G>A	ENSP00000269228.4:p.Val664Met
ENST00000540608.5:n.1904G>A
ENST00000591051.1:c.1068G>A
NM_000271.4:c.1990G>A	NP_000262.2:p.Val664Met
XM_005258277.1:c.2041G>A	XP_005258334.1:p.Val681Met
XM_005258278.3:c.2041G>A	XP_005258335.1:p.Val681Met
XM_005258279.1:c.1990G>A	XP_005258336.1:p.Val664Met
XM_006722479.2:c.2041G>A	XP_006722542.1:p.Val681Met
XM_011526015.1:c.1576G>A	XP_011524317.1:p.Val526Met
XM_005258278.5:c.2041G>A	XP_005258335.1:p.Val681Met
XM_005258279.2:c.1990G>A	XP_005258336.1:p.Val664Met
XM_006722479.3:c.2041G>A	XP_006722542.1:p.Val681Met
XM_017025784.1:c.2041G>A	XP_016881273.1:p.Val681Met
XM_017025785.1:c.2041G>A	XP_016881274.1:p.Val681Met
XM_017025786.1:c.1990G>A	XP_016881275.1:p.Val664Met
XM_017025787.1:c.1990G>A	XP_016881276.1:p.Val664Met
NM_000271.5:c.1990G>A MANE Select	NP_000262.2:p.Val664Met