Canonical Allele Identifier: CA401791395

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2199684
• ClinVar RCV Id: RCV002625085
• dbSNP Id: rs1312902967
• gnomAD v3: 18-23535596-A-T
• gnomAD v4: 18-23535596-A-T
• MyVariant Identifiers: chr18:g.21115560A>T (hg19) ; chr18:g.23535596A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535596A>T , CM000680.2:g.23535596A>T	GRCh38
NC_000018.9:g.21115560A>T , CM000680.1:g.21115560A>T	GRCh37
NC_000018.8:g.19369558A>T	NCBI36
NG_012795.1:g.56022T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3350T>A MANE Select	ENSP00000269228.4:p.Leu1117Gln
ENST00000269228.9:c.3350T>A	ENSP00000269228.4:p.Leu1117Gln
ENST00000586150.5:c.105T>A
ENST00000588867.1:n.105T>A
ENST00000591051.1:c.2428T>A
ENST00000591107.6:c.27T>A
NM_000271.4:c.3350T>A	NP_000262.2:p.Leu1117Gln
XM_005258277.1:c.3401T>A	XP_005258334.1:p.Leu1134Gln
XM_005258278.3:c.3401T>A	XP_005258335.1:p.Leu1134Gln
XM_005258279.1:c.3350T>A	XP_005258336.1:p.Leu1117Gln
XM_006722479.2:c.3401T>A	XP_006722542.1:p.Leu1134Gln
XM_011526015.1:c.2936T>A	XP_011524317.1:p.Leu979Gln
XM_005258278.5:c.3401T>A	XP_005258335.1:p.Leu1134Gln
XM_005258279.2:c.3350T>A	XP_005258336.1:p.Leu1117Gln
XM_006722479.3:c.3401T>A	XP_006722542.1:p.Leu1134Gln
XM_017025784.1:c.3401T>A	XP_016881273.1:p.Leu1134Gln
XM_017025785.1:c.3401T>A	XP_016881274.1:p.Leu1134Gln
XM_017025786.1:c.3350T>A	XP_016881275.1:p.Leu1117Gln
XM_017025787.1:c.3350T>A	XP_016881276.1:p.Leu1117Gln
NM_000271.5:c.3350T>A MANE Select	NP_000262.2:p.Leu1117Gln