Canonical Allele Identifier: CA503322067

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1088450
• ClinVar RCV Id: RCV001406942 ; RCV003900397
• dbSNP Id: rs120074131
• gnomAD v2: 18-21113434-C-T
• gnomAD v3: 18-23533470-C-T
• gnomAD v4: 18-23533470-C-T
• MyVariant Identifiers: chr18:g.21113434C>T (hg19) ; chr18:g.23533470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533470C>T , CM000680.2:g.23533470C>T	GRCh38
NC_000018.9:g.21113434C>T , CM000680.1:g.21113434C>T	GRCh37
NC_000018.8:g.19367432C>T	NCBI36
NG_012795.1:g.58148G>A
NG_033119.1:g.35001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3639G>A MANE Select	ENSP00000269228.4:p.Leu1213=
ENST00000269228.9:c.3639G>A	ENSP00000269228.4:p.Leu1213=
ENST00000586150.5:c.394G>A
ENST00000587163.1:n.163G>A
ENST00000588867.1:n.1322G>A
ENST00000590723.5:c.48G>A	ENSP00000464755.1:p.Leu16=
ENST00000591051.1:c.2717G>A
ENST00000591107.6:c.316G>A
NM_000271.4:c.3639G>A	NP_000262.2:p.Leu1213=
XM_005258277.1:c.3690G>A	XP_005258334.1:p.Leu1230=
XM_005258278.3:c.3690G>A	XP_005258335.1:p.Leu1230=
XM_005258279.1:c.3639G>A	XP_005258336.1:p.Leu1213=
XM_006722479.2:c.3690G>A	XP_006722542.1:p.Leu1230=
XM_011526015.1:c.3225G>A	XP_011524317.1:p.Leu1075=
XM_005258278.5:c.3690G>A	XP_005258335.1:p.Leu1230=
XM_005258279.2:c.3639G>A	XP_005258336.1:p.Leu1213=
XM_006722479.3:c.3690G>A	XP_006722542.1:p.Leu1230=
XM_017025784.1:c.3690G>A	XP_016881273.1:p.Leu1230=
XM_017025785.1:c.3690G>A	XP_016881274.1:p.Leu1230=
XM_017025786.1:c.3639G>A	XP_016881275.1:p.Leu1213=
XM_017025787.1:c.3639G>A	XP_016881276.1:p.Leu1213=
NM_000271.5:c.3639G>A MANE Select	NP_000262.2:p.Leu1213=