Canonical Allele Identifier: CA8913233

Gene: NPC1

Linked Data

• ClinVar Variation Id: 799314
• ClinVar RCV Id: RCV001479211
• dbSNP Id: rs754244869
• ExAC: 18:21124395 G / C
• gnomAD v2: 18-21124395-G-C
• gnomAD v4: 18-23544431-G-C
• MyVariant Identifiers: chr18:g.21124395G>C (hg19) ; chr18:g.23544431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544431G>C , CM000680.2:g.23544431G>C	GRCh38
NC_000018.9:g.21124395G>C , CM000680.1:g.21124395G>C	GRCh37
NC_000018.8:g.19378393G>C	NCBI36
NG_012795.1:g.47187C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.2043C>G MANE Select	ENSP00000269228.4:p.Pro681=
ENST00000269228.9:c.2043C>G	ENSP00000269228.4:p.Pro681=
ENST00000540608.5:n.1957C>G
ENST00000591051.1:c.1121C>G
NM_000271.4:c.2043C>G	NP_000262.2:p.Pro681=
XM_005258277.1:c.2094C>G	XP_005258334.1:p.Pro698=
XM_005258278.3:c.2094C>G	XP_005258335.1:p.Pro698=
XM_005258279.1:c.2043C>G	XP_005258336.1:p.Pro681=
XM_006722479.2:c.2094C>G	XP_006722542.1:p.Pro698=
XM_011526015.1:c.1629C>G	XP_011524317.1:p.Pro543=
XM_005258278.5:c.2094C>G	XP_005258335.1:p.Pro698=
XM_005258279.2:c.2043C>G	XP_005258336.1:p.Pro681=
XM_006722479.3:c.2094C>G	XP_006722542.1:p.Pro698=
XM_017025784.1:c.2094C>G	XP_016881273.1:p.Pro698=
XM_017025785.1:c.2094C>G	XP_016881274.1:p.Pro698=
XM_017025786.1:c.2043C>G	XP_016881275.1:p.Pro681=
XM_017025787.1:c.2043C>G	XP_016881276.1:p.Pro681=
NM_000271.5:c.2043C>G MANE Select	NP_000262.2:p.Pro681=