Canonical Allele Identifier: CA8912776

Gene: NPC1

Linked Data

• dbSNP Id: rs764277503
• ExAC: 18:21115466 A / C
• gnomAD v2: 18-21115466-A-C
• gnomAD v4: 18-23535502-A-C
• MyVariant Identifiers: chr18:g.21115466A>C (hg19) ; chr18:g.23535502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535502A>C , CM000680.2:g.23535502A>C	GRCh38
NC_000018.9:g.21115466A>C , CM000680.1:g.21115466A>C	GRCh37
NC_000018.8:g.19369464A>C	NCBI36
NG_012795.1:g.56116T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3444T>G MANE Select	ENSP00000269228.4:p.Ser1148Arg
ENST00000269228.9:c.3444T>G	ENSP00000269228.4:p.Ser1148Arg
ENST00000586150.5:c.199T>G
ENST00000588867.1:n.199T>G
ENST00000591051.1:c.2522T>G
ENST00000591107.6:c.121T>G
NM_000271.4:c.3444T>G	NP_000262.2:p.Ser1148Arg
XM_005258277.1:c.3495T>G	XP_005258334.1:p.Ser1165Arg
XM_005258278.3:c.3495T>G	XP_005258335.1:p.Ser1165Arg
XM_005258279.1:c.3444T>G	XP_005258336.1:p.Ser1148Arg
XM_006722479.2:c.3495T>G	XP_006722542.1:p.Ser1165Arg
XM_011526015.1:c.3030T>G	XP_011524317.1:p.Ser1010Arg
XM_005258278.5:c.3495T>G	XP_005258335.1:p.Ser1165Arg
XM_005258279.2:c.3444T>G	XP_005258336.1:p.Ser1148Arg
XM_006722479.3:c.3495T>G	XP_006722542.1:p.Ser1165Arg
XM_017025784.1:c.3495T>G	XP_016881273.1:p.Ser1165Arg
XM_017025785.1:c.3495T>G	XP_016881274.1:p.Ser1165Arg
XM_017025786.1:c.3444T>G	XP_016881275.1:p.Ser1148Arg
XM_017025787.1:c.3444T>G	XP_016881276.1:p.Ser1148Arg
NM_000271.5:c.3444T>G MANE Select	NP_000262.2:p.Ser1148Arg