Canonical Allele Identifier: CA503325614

Gene: NPC1

Linked Data

• ClinVar Variation Id: 1570404
• ClinVar RCV Id: RCV002213536
• dbSNP Id: rs2059163520
• gnomAD v4: 18-23568887-A-G
• MyVariant Identifiers: chr18:g.21148851A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568887A>G , CM000680.2:g.23568887A>G	GRCh38
NC_000018.9:g.21148851A>G , CM000680.1:g.21148851A>G	GRCh37
NC_000018.8:g.19402849A>G	NCBI36
NG_012795.1:g.22731T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.399T>C MANE Select	ENSP00000269228.4:p.Val133=
ENST00000269228.9:c.399T>C	ENSP00000269228.4:p.Val133=
ENST00000540608.5:n.313T>C
NM_000271.4:c.399T>C	NP_000262.2:p.Val133=
XM_005258277.1:c.399T>C	XP_005258334.1:p.Val133=
XM_005258278.3:c.399T>C	XP_005258335.1:p.Val133=
XM_005258279.1:c.399T>C	XP_005258336.1:p.Val133=
XM_006722479.2:c.399T>C	XP_006722542.1:p.Val133=
XM_011526015.1:c.-67T>C	XP_011524317.1:n.-67T>C
XM_005258278.5:c.399T>C	XP_005258335.1:p.Val133=
XM_005258279.2:c.399T>C	XP_005258336.1:p.Val133=
XM_006722479.3:c.399T>C	XP_006722542.1:p.Val133=
XM_017025784.1:c.399T>C	XP_016881273.1:p.Val133=
XM_017025785.1:c.399T>C	XP_016881274.1:p.Val133=
XM_017025786.1:c.399T>C	XP_016881275.1:p.Val133=
XM_017025787.1:c.399T>C	XP_016881276.1:p.Val133=
NM_000271.5:c.399T>C MANE Select	NP_000262.2:p.Val133=