Canonical Allele Identifier: CA503324857

Gene: NPC1

Linked Data

• dbSNP Id: rs1385445175
• gnomAD v2: 18-21131622-C-T
• MyVariant Identifiers: chr18:g.21131622C>T (hg19) ; chr18:g.23551658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551658C>T , CM000680.2:g.23551658C>T	GRCh38
NC_000018.9:g.21131622C>T , CM000680.1:g.21131622C>T	GRCh37
NC_000018.8:g.19385620C>T	NCBI36
NG_012795.1:g.39960G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1623G>A MANE Select	ENSP00000269228.4:p.Val541=
ENST00000269228.9:c.1623G>A	ENSP00000269228.4:p.Val541=
ENST00000540608.5:n.1537G>A
ENST00000590301.1:n.298G>A
ENST00000591051.1:c.835+3100G>A
NM_000271.4:c.1623G>A	NP_000262.2:p.Val541=
XM_005258277.1:c.1674G>A	XP_005258334.1:p.Val558=
XM_005258278.3:c.1674G>A	XP_005258335.1:p.Val558=
XM_005258279.1:c.1623G>A	XP_005258336.1:p.Val541=
XM_006722479.2:c.1674G>A	XP_006722542.1:p.Val558=
XM_011526015.1:c.1209G>A	XP_011524317.1:p.Val403=
XM_005258278.5:c.1674G>A	XP_005258335.1:p.Val558=
XM_005258279.2:c.1623G>A	XP_005258336.1:p.Val541=
XM_006722479.3:c.1674G>A	XP_006722542.1:p.Val558=
XM_017025784.1:c.1674G>A	XP_016881273.1:p.Val558=
XM_017025785.1:c.1674G>A	XP_016881274.1:p.Val558=
XM_017025786.1:c.1623G>A	XP_016881275.1:p.Val541=
XM_017025787.1:c.1623G>A	XP_016881276.1:p.Val541=
NM_000271.5:c.1623G>A MANE Select	NP_000262.2:p.Val541=