Canonical Allele Identifier: CA503324897

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1151151
• ClinVar RCV Id: RCV001491991
• dbSNP Id: rs1376770067
• gnomAD v2: 18-21131676-C-T
• gnomAD v3: 18-23551712-C-T
• gnomAD v4: 18-23551712-C-T
• MyVariant Identifiers: chr18:g.21131676C>T (hg19) ; chr18:g.23551712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551712C>T , CM000680.2:g.23551712C>T	GRCh38
NC_000018.9:g.21131676C>T , CM000680.1:g.21131676C>T	GRCh37
NC_000018.8:g.19385674C>T	NCBI36
NG_012795.1:g.39906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1569G>A MANE Select	ENSP00000269228.4:p.Leu523=
ENST00000269228.9:c.1569G>A	ENSP00000269228.4:p.Leu523=
ENST00000540608.5:n.1483G>A
ENST00000590301.1:n.244G>A
ENST00000591051.1:c.835+3046G>A
NM_000271.4:c.1569G>A	NP_000262.2:p.Leu523=
XM_005258277.1:c.1620G>A	XP_005258334.1:p.Leu540=
XM_005258278.3:c.1620G>A	XP_005258335.1:p.Leu540=
XM_005258279.1:c.1569G>A	XP_005258336.1:p.Leu523=
XM_006722479.2:c.1620G>A	XP_006722542.1:p.Leu540=
XM_011526015.1:c.1155G>A	XP_011524317.1:p.Leu385=
XM_005258278.5:c.1620G>A	XP_005258335.1:p.Leu540=
XM_005258279.2:c.1569G>A	XP_005258336.1:p.Leu523=
XM_006722479.3:c.1620G>A	XP_006722542.1:p.Leu540=
XM_017025784.1:c.1620G>A	XP_016881273.1:p.Leu540=
XM_017025785.1:c.1620G>A	XP_016881274.1:p.Leu540=
XM_017025786.1:c.1569G>A	XP_016881275.1:p.Leu523=
XM_017025787.1:c.1569G>A	XP_016881276.1:p.Leu523=
NM_000271.5:c.1569G>A MANE Select	NP_000262.2:p.Leu523=