Canonical Allele Identifier: CA341663

Gene: NPC1

Linked Data

• ClinVar Variation Id: 21137
• ClinVar RCV Id: RCV000020229 ; RCV000413372
• dbSNP Id: rs80358254
• ExAC: 18:21118573 C / T
• gnomAD v2: 18-21118573-C-T
• gnomAD v3: 18-23538609-C-T
• gnomAD v4: 18-23538609-C-T
• MyVariant Identifiers: chr18:g.21118573C>T (hg19) ; chr18:g.21118573_21118575delinsTCT (hg19) ; chr18:g.23538609C>T (hg38)
• PubMed: PMID:11333381 ; PMID:11479732 ; PMID:12205649 ; PMID:16098014 ; PMID:16126423 ; PMID:17003072 ; PMID:19013089 ; PMID:19307542 ; PMID:19609713 ; PMID:20301473 ; PMID:23427322

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23538609C>T , CM000680.2:g.23538609C>T	GRCh38
NC_000018.9:g.21118573C>T , CM000680.1:g.21118573C>T	GRCh37
NC_000018.8:g.19372571C>T	NCBI36
NG_012795.1:g.53009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.2974G>A MANE Select	ENSP00000269228.4:p.Gly992Arg
ENST00000269228.9:c.2974G>A	ENSP00000269228.4:p.Gly992Arg
ENST00000591051.1:c.2052G>A
ENST00000591075.1:n.607G>A
ENST00000591955.1:n.317G>A
NM_000271.4:c.2974G>A	NP_000262.2:p.Gly992Arg
XM_005258277.1:c.3025G>A	XP_005258334.1:p.Gly1009Arg
XM_005258278.3:c.3025G>A	XP_005258335.1:p.Gly1009Arg
XM_005258279.1:c.2974G>A	XP_005258336.1:p.Gly992Arg
XM_006722479.2:c.3025G>A	XP_006722542.1:p.Gly1009Arg
XM_011526015.1:c.2560G>A	XP_011524317.1:p.Gly854Arg
XM_005258278.5:c.3025G>A	XP_005258335.1:p.Gly1009Arg
XM_005258279.2:c.2974G>A	XP_005258336.1:p.Gly992Arg
XM_006722479.3:c.3025G>A	XP_006722542.1:p.Gly1009Arg
XM_017025784.1:c.3025G>A	XP_016881273.1:p.Gly1009Arg
XM_017025785.1:c.3025G>A	XP_016881274.1:p.Gly1009Arg
XM_017025786.1:c.2974G>A	XP_016881275.1:p.Gly992Arg
XM_017025787.1:c.2974G>A	XP_016881276.1:p.Gly992Arg
NM_000271.5:c.2974G>A MANE Select	NP_000262.2:p.Gly992Arg