Canonical Allele Identifier: CA8913420
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499570
ClinVar RCV Id: RCV002010755
dbSNP Id: rs769935106

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23551700A>T , CM000680.2:g.23551700A>T GRCh38
NC_000018.9:g.21131664A>T , CM000680.1:g.21131664A>T GRCh37
NC_000018.8:g.19385662A>T NCBI36
NG_012795.1:g.39918T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269228.10:c.1581T>A MANE Select ENSP00000269228.4:p.Ser527Arg
ENST00000269228.9:c.1581T>A ENSP00000269228.4:p.Ser527Arg
ENST00000540608.5:n.1495T>A
ENST00000590301.1:n.256T>A
ENST00000591051.1:c.835+3058T>A
NM_000271.4:c.1581T>A NP_000262.2:p.Ser527Arg
XM_005258277.1:c.1632T>A XP_005258334.1:p.Ser544Arg
XM_005258278.3:c.1632T>A XP_005258335.1:p.Ser544Arg
XM_005258279.1:c.1581T>A XP_005258336.1:p.Ser527Arg
XM_006722479.2:c.1632T>A XP_006722542.1:p.Ser544Arg
XM_011526015.1:c.1167T>A XP_011524317.1:p.Ser389Arg
XM_005258278.5:c.1632T>A XP_005258335.1:p.Ser544Arg
XM_005258279.2:c.1581T>A XP_005258336.1:p.Ser527Arg
XM_006722479.3:c.1632T>A XP_006722542.1:p.Ser544Arg
XM_017025784.1:c.1632T>A XP_016881273.1:p.Ser544Arg
XM_017025785.1:c.1632T>A XP_016881274.1:p.Ser544Arg
XM_017025786.1:c.1581T>A XP_016881275.1:p.Ser527Arg
XM_017025787.1:c.1581T>A XP_016881276.1:p.Ser527Arg
NM_000271.5:c.1581T>A MANE Select NP_000262.2:p.Ser527Arg