Canonical Allele Identifier: CA340033

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2967
• ClinVar RCV Id: RCV000003101 ; RCV000254672 ; RCV000587869 ; RCV000624446 ; RCV003335012 ; RCV003964790
• dbSNP Id: rs80358259
• ExAC: 18:21116700 A / G
• gnomAD v2: 18-21116700-A-G
• gnomAD v3: 18-23536736-A-G
• gnomAD v4: 18-23536736-A-G
• COSMIC: COSM3524491
• MyVariant Identifiers: chr18:g.21116700A>G (hg19) ; chr18:g.23536736A>G (hg38)
• PubMed: PMID:9425535 ; PMID:10480349 ; PMID:10521297 ; PMID:12974729 ; PMID:16098014 ; PMID:18216017 ; PMID:19744920 ; PMID:20301473 ; PMID:20525256 ; PMID:22572546 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23536736A>G , CM000680.2:g.23536736A>G	GRCh38
NC_000018.9:g.21116700A>G , CM000680.1:g.21116700A>G	GRCh37
NC_000018.8:g.19370698A>G	NCBI36
NG_012795.1:g.54882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.3182T>C MANE Select	ENSP00000269228.4:p.Ile1061Thr
ENST00000269228.9:c.3182T>C	ENSP00000269228.4:p.Ile1061Thr
ENST00000591051.1:c.2260T>C
ENST00000591955.1:n.525T>C
NM_000271.4:c.3182T>C	NP_000262.2:p.Ile1061Thr
XM_005258277.1:c.3233T>C	XP_005258334.1:p.Ile1078Thr
XM_005258278.3:c.3233T>C	XP_005258335.1:p.Ile1078Thr
XM_005258279.1:c.3182T>C	XP_005258336.1:p.Ile1061Thr
XM_006722479.2:c.3233T>C	XP_006722542.1:p.Ile1078Thr
XM_011526015.1:c.2768T>C	XP_011524317.1:p.Ile923Thr
XM_005258278.5:c.3233T>C	XP_005258335.1:p.Ile1078Thr
XM_005258279.2:c.3182T>C	XP_005258336.1:p.Ile1061Thr
XM_006722479.3:c.3233T>C	XP_006722542.1:p.Ile1078Thr
XM_017025784.1:c.3233T>C	XP_016881273.1:p.Ile1078Thr
XM_017025785.1:c.3233T>C	XP_016881274.1:p.Ile1078Thr
XM_017025786.1:c.3182T>C	XP_016881275.1:p.Ile1061Thr
XM_017025787.1:c.3182T>C	XP_016881276.1:p.Ile1061Thr
NM_000271.5:c.3182T>C MANE Select	NP_000262.2:p.Ile1061Thr