Canonical Allele Identifier: CA252497

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2959
• ClinVar RCV Id: RCV003114174 ; RCV003480016
• dbSNP Id: rs28942105
• ExAC: 18:21115443 T / C
• gnomAD v2: 18-21115443-T-C
• gnomAD v3: 18-23535479-T-C
• gnomAD v4: 18-23535479-T-C
• MyVariant Identifiers: chr18:g.21115443T>C (hg19) ; chr18:g.23535479T>C (hg38)
• PubMed: PMID:9211849 ; PMID:27900365

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535479T>C , CM000680.2:g.23535479T>C	GRCh38
NC_000018.9:g.21115443T>C , CM000680.1:g.21115443T>C	GRCh37
NC_000018.8:g.19369441T>C	NCBI36
NG_012795.1:g.56139A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3467A>G MANE Select	ENSP00000269228.4:p.Asn1156Ser
ENST00000269228.9:c.3467A>G	ENSP00000269228.4:p.Asn1156Ser
ENST00000586150.5:c.222A>G
ENST00000588867.1:n.222A>G
ENST00000591051.1:c.2545A>G
ENST00000591107.6:c.144A>G
NM_000271.4:c.3467A>G	NP_000262.2:p.Asn1156Ser
XM_005258277.1:c.3518A>G	XP_005258334.1:p.Asn1173Ser
XM_005258278.3:c.3518A>G	XP_005258335.1:p.Asn1173Ser
XM_005258279.1:c.3467A>G	XP_005258336.1:p.Asn1156Ser
XM_006722479.2:c.3518A>G	XP_006722542.1:p.Asn1173Ser
XM_011526015.1:c.3053A>G	XP_011524317.1:p.Asn1018Ser
XM_005258278.5:c.3518A>G	XP_005258335.1:p.Asn1173Ser
XM_005258279.2:c.3467A>G	XP_005258336.1:p.Asn1156Ser
XM_006722479.3:c.3518A>G	XP_006722542.1:p.Asn1173Ser
XM_017025784.1:c.3518A>G	XP_016881273.1:p.Asn1173Ser
XM_017025785.1:c.3518A>G	XP_016881274.1:p.Asn1173Ser
XM_017025786.1:c.3467A>G	XP_016881275.1:p.Asn1156Ser
XM_017025787.1:c.3467A>G	XP_016881276.1:p.Asn1156Ser
NM_000271.5:c.3467A>G MANE Select	NP_000262.2:p.Asn1156Ser