Canonical Allele Identifier: CA2580095546

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1696116
• ClinVar RCV Id: RCV002266260 ; RCV003500696
• dbSNP Id: rs2145351244
• gnomAD v4: 18-23535623-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535624dup , CM000680.2:g.23535624dup	GRCh38
NC_000018.9:g.21115588dup , CM000680.1:g.21115588dup	GRCh37
NC_000018.8:g.19369586dup	NCBI36
NG_012795.1:g.55994dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3322dup MANE Select	ENSP00000269228.4:p.Ala1108GlyfsTer13
ENST00000269228.9:c.3322dup	ENSP00000269228.4:p.Ala1108GlyfsTer13
ENST00000586150.5:c.77dup
ENST00000588867.1:n.77dup
ENST00000591051.1:c.2400dup
NM_000271.4:c.3322dup	NP_000262.2:p.Ala1108GlyfsTer13
XM_005258277.1:c.3373dup	XP_005258334.1:p.Ala1125GlyfsTer13
XM_005258278.3:c.3373dup	XP_005258335.1:p.Ala1125GlyfsTer13
XM_005258279.1:c.3322dup	XP_005258336.1:p.Ala1108GlyfsTer13
XM_006722479.2:c.3373dup	XP_006722542.1:p.Ala1125GlyfsTer13
XM_011526015.1:c.2908dup	XP_011524317.1:p.Ala970GlyfsTer13
XM_005258278.5:c.3373dup	XP_005258335.1:p.Ala1125GlyfsTer13
XM_005258279.2:c.3322dup	XP_005258336.1:p.Ala1108GlyfsTer13
XM_006722479.3:c.3373dup	XP_006722542.1:p.Ala1125GlyfsTer13
XM_017025784.1:c.3373dup	XP_016881273.1:p.Ala1125GlyfsTer13
XM_017025785.1:c.3373dup	XP_016881274.1:p.Ala1125GlyfsTer13
XM_017025786.1:c.3322dup	XP_016881275.1:p.Ala1108GlyfsTer13
XM_017025787.1:c.3322dup	XP_016881276.1:p.Ala1108GlyfsTer13
NM_000271.5:c.3322dup MANE Select	NP_000262.2:p.Ala1108GlyfsTer13