Canonical Allele Identifier: CA200890

Gene: NPC1

Linked Data

• ClinVar Variation Id: 193981
• ClinVar RCV Id: RCV000174228 ; RCV002054059
• dbSNP Id: rs1555634619
• ExAC: 18:21124916 C / CG
• gnomAD v2: 18-21124916-C-CG
• gnomAD v3: 18-23544952-C-CG
• gnomAD v4: 18-23544952-C-CG
• MyVariant Identifiers: chr18:g.21124917dupG (hg19) ; chr18:g.21124916_21124917insG (hg19) ; chr18:g.23544953dupG (hg38) ; chr18:g.23544952_23544953insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23544954dup , CM000680.2:g.23544954dup	GRCh38
NC_000018.9:g.21124918dup , CM000680.1:g.21124918dup	GRCh37
NC_000018.8:g.19378916dup	NCBI36
NG_012795.1:g.46665dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.1947+7dup MANE Select	ENSP00000269228.4:n.1947+7dup
ENST00000269228.9:c.1947+7dup	ENSP00000269228.4:n.1947+7dup
ENST00000540608.5:n.1861+7dup
ENST00000591051.1:c.1025+7dup
NM_000271.4:c.1947+7dup	NP_000262.2:n.1947+7dup
XM_005258277.1:c.1998+7dup	XP_005258334.1:n.1998+7dup
XM_005258278.3:c.1998+7dup	XP_005258335.1:n.1998+7dup
XM_005258279.1:c.1947+7dup	XP_005258336.1:n.1947+7dup
XM_006722479.2:c.1998+7dup	XP_006722542.1:n.1998+7dup
XM_011526015.1:c.1533+7dup	XP_011524317.1:n.1533+7dup
XM_005258278.5:c.1998+7dup	XP_005258335.1:n.1998+7dup
XM_005258279.2:c.1947+7dup	XP_005258336.1:n.1947+7dup
XM_006722479.3:c.1998+7dup	XP_006722542.1:n.1998+7dup
XM_017025784.1:c.1998+7dup	XP_016881273.1:n.1998+7dup
XM_017025785.1:c.1998+7dup	XP_016881274.1:n.1998+7dup
XM_017025786.1:c.1947+7dup	XP_016881275.1:n.1947+7dup
XM_017025787.1:c.1947+7dup	XP_016881276.1:n.1947+7dup
NM_000271.5:c.1947+7dup MANE Select	NP_000262.2:n.1947+7dup