Canonical Allele Identifier: CA273968
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188794
dbSNP Id: rs139751448

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23556358C>T , CM000680.2:g.23556358C>T GRCh38
NC_000018.9:g.21136322C>T , CM000680.1:g.21136322C>T GRCh37
NC_000018.8:g.19390320C>T NCBI36
NG_012795.1:g.35260G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.1211G>A MANE Select ENSP00000269228.4:p.Arg404Gln
ENST00000269228.9:c.1211G>A ENSP00000269228.4:p.Arg404Gln
ENST00000540608.5:n.1125G>A
ENST00000591051.1:c.493G>A
NM_000271.4:c.1211G>A NP_000262.2:p.Arg404Gln
XM_005258277.1:c.1262G>A XP_005258334.1:p.Arg421Gln
XM_005258278.3:c.1262G>A XP_005258335.1:p.Arg421Gln
XM_005258279.1:c.1211G>A XP_005258336.1:p.Arg404Gln
XM_006722479.2:c.1262G>A XP_006722542.1:p.Arg421Gln
XM_011526015.1:c.797G>A XP_011524317.1:p.Arg266Gln
XM_005258278.5:c.1262G>A XP_005258335.1:p.Arg421Gln
XM_005258279.2:c.1211G>A XP_005258336.1:p.Arg404Gln
XM_006722479.3:c.1262G>A XP_006722542.1:p.Arg421Gln
XM_017025784.1:c.1262G>A XP_016881273.1:p.Arg421Gln
XM_017025785.1:c.1262G>A XP_016881274.1:p.Arg421Gln
XM_017025786.1:c.1211G>A XP_016881275.1:p.Arg404Gln
XM_017025787.1:c.1211G>A XP_016881276.1:p.Arg404Gln
NM_000271.5:c.1211G>A MANE Select NP_000262.2:p.Arg404Gln