Canonical Allele Identifier: CA1139665984

Gene: NPC1

Linked Data

• ClinVar Variation Id: 952147
• ClinVar RCV Id: RCV001224198
• dbSNP Id: rs2058926540

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23554816dup , CM000680.2:g.23554816dup	GRCh38
NC_000018.9:g.21134780dup , CM000680.1:g.21134780dup	GRCh37
NC_000018.8:g.19388778dup	NCBI36
NG_012795.1:g.36804dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1497dup MANE Select	ENSP00000269228.4:p.Gly500ArgfsTer26
ENST00000269228.9:c.1497dup	ENSP00000269228.4:p.Gly500ArgfsTer26
ENST00000540608.5:n.1411dup
ENST00000590301.1:n.172dup
ENST00000591051.1:c.779dup
NM_000271.4:c.1497dup	NP_000262.2:p.Gly500ArgfsTer26
XM_005258277.1:c.1548dup	XP_005258334.1:p.Gly517ArgfsTer26
XM_005258278.3:c.1548dup	XP_005258335.1:p.Gly517ArgfsTer26
XM_005258279.1:c.1497dup	XP_005258336.1:p.Gly500ArgfsTer26
XM_006722479.2:c.1548dup	XP_006722542.1:p.Gly517ArgfsTer26
XM_011526015.1:c.1083dup	XP_011524317.1:p.Gly362ArgfsTer26
XM_005258278.5:c.1548dup	XP_005258335.1:p.Gly517ArgfsTer26
XM_005258279.2:c.1497dup	XP_005258336.1:p.Gly500ArgfsTer26
XM_006722479.3:c.1548dup	XP_006722542.1:p.Gly517ArgfsTer26
XM_017025784.1:c.1548dup	XP_016881273.1:p.Gly517ArgfsTer26
XM_017025785.1:c.1548dup	XP_016881274.1:p.Gly517ArgfsTer26
XM_017025786.1:c.1497dup	XP_016881275.1:p.Gly500ArgfsTer26
XM_017025787.1:c.1497dup	XP_016881276.1:p.Gly500ArgfsTer26
NM_000271.5:c.1497dup MANE Select	NP_000262.2:p.Gly500ArgfsTer26