Canonical Allele Identifier: CA252503

Gene: NPC1

Linked Data

• ClinVar Variation Id: 2978
• ClinVar RCV Id: RCV000003112 ; RCV002509143
• dbSNP Id: rs120074136
• MyVariant Identifiers: chr18:g.21148913A>G (hg19) ; chr18:g.23568949A>G (hg38)
• PubMed: PMID:12554680

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568949A>G , CM000680.2:g.23568949A>G	GRCh38
NC_000018.9:g.21148913A>G , CM000680.1:g.21148913A>G	GRCh37
NC_000018.8:g.19402911A>G	NCBI36
NG_012795.1:g.22669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.337T>C MANE Select	ENSP00000269228.4:p.Cys113Arg
ENST00000269228.9:c.337T>C	ENSP00000269228.4:p.Cys113Arg
ENST00000540608.5:n.251T>C
NM_000271.4:c.337T>C	NP_000262.2:p.Cys113Arg
XM_005258277.1:c.337T>C	XP_005258334.1:p.Cys113Arg
XM_005258278.3:c.337T>C	XP_005258335.1:p.Cys113Arg
XM_005258279.1:c.337T>C	XP_005258336.1:p.Cys113Arg
XM_006722479.2:c.337T>C	XP_006722542.1:p.Cys113Arg
XM_011526015.1:c.-129T>C	XP_011524317.1:n.-129T>C
XM_005258278.5:c.337T>C	XP_005258335.1:p.Cys113Arg
XM_005258279.2:c.337T>C	XP_005258336.1:p.Cys113Arg
XM_006722479.3:c.337T>C	XP_006722542.1:p.Cys113Arg
XM_017025784.1:c.337T>C	XP_016881273.1:p.Cys113Arg
XM_017025785.1:c.337T>C	XP_016881274.1:p.Cys113Arg
XM_017025786.1:c.337T>C	XP_016881275.1:p.Cys113Arg
XM_017025787.1:c.337T>C	XP_016881276.1:p.Cys113Arg
NM_000271.5:c.337T>C MANE Select	NP_000262.2:p.Cys113Arg