Canonical Allele Identifier: CA503324932

Gene: NPC1

Linked Data

• dbSNP Id: rs1352253935
• gnomAD v4: 18-23554796-C-T
• MyVariant Identifiers: chr18:g.21134760C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554796C>T , CM000680.2:g.23554796C>T	GRCh38
NC_000018.9:g.21134760C>T , CM000680.1:g.21134760C>T	GRCh37
NC_000018.8:g.19388758C>T	NCBI36
NG_012795.1:g.36822G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1515G>A MANE Select	ENSP00000269228.4:p.Val505=
ENST00000269228.9:c.1515G>A	ENSP00000269228.4:p.Val505=
ENST00000540608.5:n.1429G>A
ENST00000590301.1:n.190G>A
ENST00000591051.1:c.797G>A
NM_000271.4:c.1515G>A	NP_000262.2:p.Val505=
XM_005258277.1:c.1566G>A	XP_005258334.1:p.Val522=
XM_005258278.3:c.1566G>A	XP_005258335.1:p.Val522=
XM_005258279.1:c.1515G>A	XP_005258336.1:p.Val505=
XM_006722479.2:c.1566G>A	XP_006722542.1:p.Val522=
XM_011526015.1:c.1101G>A	XP_011524317.1:p.Val367=
XM_005258278.5:c.1566G>A	XP_005258335.1:p.Val522=
XM_005258279.2:c.1515G>A	XP_005258336.1:p.Val505=
XM_006722479.3:c.1566G>A	XP_006722542.1:p.Val522=
XM_017025784.1:c.1566G>A	XP_016881273.1:p.Val522=
XM_017025785.1:c.1566G>A	XP_016881274.1:p.Val522=
XM_017025786.1:c.1515G>A	XP_016881275.1:p.Val505=
XM_017025787.1:c.1515G>A	XP_016881276.1:p.Val505=
NM_000271.5:c.1515G>A MANE Select	NP_000262.2:p.Val505=