Canonical Allele Identifier: CA401791169

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1997193
• ClinVar RCV Id: RCV002823923
• dbSNP Id: rs765729815
• gnomAD v4: 18-23535495-C-A
• MyVariant Identifiers: chr18:g.21115459C>A (hg19) ; chr18:g.23535495C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535495C>A , CM000680.2:g.23535495C>A	GRCh38
NC_000018.9:g.21115459C>A , CM000680.1:g.21115459C>A	GRCh37
NC_000018.8:g.19369457C>A	NCBI36
NG_012795.1:g.56123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3451G>T MANE Select	ENSP00000269228.4:p.Ala1151Ser
ENST00000269228.9:c.3451G>T	ENSP00000269228.4:p.Ala1151Ser
ENST00000586150.5:c.206G>T
ENST00000588867.1:n.206G>T
ENST00000591051.1:c.2529G>T
ENST00000591107.6:c.128G>T
NM_000271.4:c.3451G>T	NP_000262.2:p.Ala1151Ser
XM_005258277.1:c.3502G>T	XP_005258334.1:p.Ala1168Ser
XM_005258278.3:c.3502G>T	XP_005258335.1:p.Ala1168Ser
XM_005258279.1:c.3451G>T	XP_005258336.1:p.Ala1151Ser
XM_006722479.2:c.3502G>T	XP_006722542.1:p.Ala1168Ser
XM_011526015.1:c.3037G>T	XP_011524317.1:p.Ala1013Ser
XM_005258278.5:c.3502G>T	XP_005258335.1:p.Ala1168Ser
XM_005258279.2:c.3451G>T	XP_005258336.1:p.Ala1151Ser
XM_006722479.3:c.3502G>T	XP_006722542.1:p.Ala1168Ser
XM_017025784.1:c.3502G>T	XP_016881273.1:p.Ala1168Ser
XM_017025785.1:c.3502G>T	XP_016881274.1:p.Ala1168Ser
XM_017025786.1:c.3451G>T	XP_016881275.1:p.Ala1151Ser
XM_017025787.1:c.3451G>T	XP_016881276.1:p.Ala1151Ser
NM_000271.5:c.3451G>T MANE Select	NP_000262.2:p.Ala1151Ser