Canonical Allele Identifier: CA401790766

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1006932
• ClinVar RCV Id: RCV001304052
• dbSNP Id: rs1178040336
• gnomAD v2: 18-21113443-A-C
• gnomAD v3: 18-23533479-A-C
• gnomAD v4: 18-23533479-A-C
• MyVariant Identifiers: chr18:g.21113443A>C (hg19) ; chr18:g.23533479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533479A>C , CM000680.2:g.23533479A>C	GRCh38
NC_000018.9:g.21113443A>C , CM000680.1:g.21113443A>C	GRCh37
NC_000018.8:g.19367441A>C	NCBI36
NG_012795.1:g.58139T>G
NG_033119.1:g.35010A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3630T>G MANE Select	ENSP00000269228.4:p.Ile1210Met
ENST00000269228.9:c.3630T>G	ENSP00000269228.4:p.Ile1210Met
ENST00000586150.5:c.385T>G
ENST00000587163.1:n.154T>G
ENST00000588867.1:n.1313T>G
ENST00000590723.5:c.39T>G	ENSP00000464755.1:p.Ile13Met
ENST00000591051.1:c.2708T>G
ENST00000591107.6:c.307T>G
NM_000271.4:c.3630T>G	NP_000262.2:p.Ile1210Met
XM_005258277.1:c.3681T>G	XP_005258334.1:p.Ile1227Met
XM_005258278.3:c.3681T>G	XP_005258335.1:p.Ile1227Met
XM_005258279.1:c.3630T>G	XP_005258336.1:p.Ile1210Met
XM_006722479.2:c.3681T>G	XP_006722542.1:p.Ile1227Met
XM_011526015.1:c.3216T>G	XP_011524317.1:p.Ile1072Met
XM_005258278.5:c.3681T>G	XP_005258335.1:p.Ile1227Met
XM_005258279.2:c.3630T>G	XP_005258336.1:p.Ile1210Met
XM_006722479.3:c.3681T>G	XP_006722542.1:p.Ile1227Met
XM_017025784.1:c.3681T>G	XP_016881273.1:p.Ile1227Met
XM_017025785.1:c.3681T>G	XP_016881274.1:p.Ile1227Met
XM_017025786.1:c.3630T>G	XP_016881275.1:p.Ile1210Met
XM_017025787.1:c.3630T>G	XP_016881276.1:p.Ile1210Met
NM_000271.5:c.3630T>G MANE Select	NP_000262.2:p.Ile1210Met