Canonical Allele Identifier: CA16041914
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371343
ClinVar RCV Id: RCV000410469
dbSNP Id: rs1057517197

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23545148del , CM000680.2:g.23545148del GRCh38
NC_000018.9:g.21125112del , CM000680.1:g.21125112del GRCh37
NC_000018.8:g.19379110del NCBI36
NG_012795.1:g.46472del

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.1761del VV NP_000262.2:p.Phe587LeufsTer5
XM_005258277.1:c.1812del XP_005258334.1:p.Phe604LeufsTer5
XM_005258278.3:c.1812del XP_005258335.1:p.Phe604LeufsTer5
XM_005258279.1:c.1761del XP_005258336.1:p.Phe587LeufsTer5
XM_006722479.2:c.1812del XP_006722542.1:p.Phe604LeufsTer5
XM_011526015.1:c.1347del XP_011524317.1:p.Phe449LeufsTer5
XM_005258278.5:c.1812del XP_005258335.1:p.Phe604LeufsTer5
XM_005258279.2:c.1761del XP_005258336.1:p.Phe587LeufsTer5
XM_006722479.3:c.1812del XP_006722542.1:p.Phe604LeufsTer5
XM_017025784.1:c.1812del XP_016881273.1:p.Phe604LeufsTer5
XM_017025785.1:c.1812del XP_016881274.1:p.Phe604LeufsTer5
XM_017025786.1:c.1761del XP_016881275.1:p.Phe587LeufsTer5
XM_017025787.1:c.1761del XP_016881276.1:p.Phe587LeufsTer5
NM_000271.5:c.1761del VV MANE Preferred NP_000262.2:p.Phe587LeufsTer5
ENST00000269228.9:c.1761del ENSP00000269228.4:p.Phe587LeufsTer5
ENST00000540608.5:n.1675del
ENST00000591051.1:n.839del