Canonical Allele Identifier: CA401791616

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2506393
• ClinVar RCV Id: RCV003234979
• dbSNP Id: rs761952957
• gnomAD v2: 18-21115664-A-T
• gnomAD v4: 18-23535700-A-T
• MyVariant Identifiers: chr18:g.21115664A>T (hg19) ; chr18:g.23535700A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535700A>T , CM000680.2:g.23535700A>T	GRCh38
NC_000018.9:g.21115664A>T , CM000680.1:g.21115664A>T	GRCh37
NC_000018.8:g.19369662A>T	NCBI36
NG_012795.1:g.55918T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3246T>A MANE Select	ENSP00000269228.4:p.Ser1082Arg
ENST00000269228.9:c.3246T>A	ENSP00000269228.4:p.Ser1082Arg
ENST00000586150.5:c.1T>A
ENST00000588867.1:n.1T>A
ENST00000591051.1:c.2324T>A
NM_000271.4:c.3246T>A	NP_000262.2:p.Ser1082Arg
XM_005258277.1:c.3297T>A	XP_005258334.1:p.Ser1099Arg
XM_005258278.3:c.3297T>A	XP_005258335.1:p.Ser1099Arg
XM_005258279.1:c.3246T>A	XP_005258336.1:p.Ser1082Arg
XM_006722479.2:c.3297T>A	XP_006722542.1:p.Ser1099Arg
XM_011526015.1:c.2832T>A	XP_011524317.1:p.Ser944Arg
XM_005258278.5:c.3297T>A	XP_005258335.1:p.Ser1099Arg
XM_005258279.2:c.3246T>A	XP_005258336.1:p.Ser1082Arg
XM_006722479.3:c.3297T>A	XP_006722542.1:p.Ser1099Arg
XM_017025784.1:c.3297T>A	XP_016881273.1:p.Ser1099Arg
XM_017025785.1:c.3297T>A	XP_016881274.1:p.Ser1099Arg
XM_017025786.1:c.3246T>A	XP_016881275.1:p.Ser1082Arg
XM_017025787.1:c.3246T>A	XP_016881276.1:p.Ser1082Arg
NM_000271.5:c.3246T>A MANE Select	NP_000262.2:p.Ser1082Arg