Canonical Allele Identifier: CA269817

Gene: NPC1

Linked Data

• ClinVar Variation Id: 132889
• ClinVar RCV Id: RCV000119326
• dbSNP Id: rs483352885
• MyVariant Identifiers: chr18:g.21134773T>A (hg19) ; chr18:g.23554809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554809T>A , CM000680.2:g.23554809T>A	GRCh38
NC_000018.9:g.21134773T>A , CM000680.1:g.21134773T>A	GRCh37
NC_000018.8:g.19388771T>A	NCBI36
NG_012795.1:g.36809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1502A>T MANE Select	ENSP00000269228.4:p.Asp501Val
ENST00000269228.9:c.1502A>T	ENSP00000269228.4:p.Asp501Val
ENST00000540608.5:n.1416A>T
ENST00000590301.1:n.177A>T
ENST00000591051.1:c.784A>T
NM_000271.4:c.1502A>T	NP_000262.2:p.Asp501Val
XM_005258277.1:c.1553A>T	XP_005258334.1:p.Asp518Val
XM_005258278.3:c.1553A>T	XP_005258335.1:p.Asp518Val
XM_005258279.1:c.1502A>T	XP_005258336.1:p.Asp501Val
XM_006722479.2:c.1553A>T	XP_006722542.1:p.Asp518Val
XM_011526015.1:c.1088A>T	XP_011524317.1:p.Asp363Val
XM_005258278.5:c.1553A>T	XP_005258335.1:p.Asp518Val
XM_005258279.2:c.1502A>T	XP_005258336.1:p.Asp501Val
XM_006722479.3:c.1553A>T	XP_006722542.1:p.Asp518Val
XM_017025784.1:c.1553A>T	XP_016881273.1:p.Asp518Val
XM_017025785.1:c.1553A>T	XP_016881274.1:p.Asp518Val
XM_017025786.1:c.1502A>T	XP_016881275.1:p.Asp501Val
XM_017025787.1:c.1502A>T	XP_016881276.1:p.Asp501Val
NM_000271.5:c.1502A>T MANE Select	NP_000262.2:p.Asp501Val