Canonical Allele Identifier: CA16041915
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371675
ClinVar RCV Id: RCV000412209
dbSNP Id: rs1057517455

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23548052del , CM000680.2:g.23548052del GRCh38
NC_000018.9:g.21128016del , CM000680.1:g.21128016del GRCh37
NC_000018.8:g.19382014del NCBI36
NG_012795.1:g.43566del

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.1711del VV NP_000262.2:p.Tyr571IlefsTer21
XM_005258277.1:c.1762del XP_005258334.1:p.Tyr588IlefsTer21
XM_005258278.3:c.1762del XP_005258335.1:p.Tyr588IlefsTer21
XM_005258279.1:c.1711del XP_005258336.1:p.Tyr571IlefsTer21
XM_006722479.2:c.1762del XP_006722542.1:p.Tyr588IlefsTer21
XM_011526015.1:c.1297del XP_011524317.1:p.Tyr433IlefsTer21
XM_005258278.5:c.1762del XP_005258335.1:p.Tyr588IlefsTer21
XM_005258279.2:c.1711del XP_005258336.1:p.Tyr571IlefsTer21
XM_006722479.3:c.1762del XP_006722542.1:p.Tyr588IlefsTer21
XM_017025784.1:c.1762del XP_016881273.1:p.Tyr588IlefsTer21
XM_017025785.1:c.1762del XP_016881274.1:p.Tyr588IlefsTer21
XM_017025786.1:c.1711del XP_016881275.1:p.Tyr571IlefsTer21
XM_017025787.1:c.1711del XP_016881276.1:p.Tyr571IlefsTer21
NM_000271.5:c.1711del VV MANE Preferred NP_000262.2:p.Tyr571IlefsTer21
ENST00000269228.9:c.1711del ENSP00000269228.4:p.Tyr571IlefsTer21
ENST00000540608.5:n.1625del
ENST00000591051.1:n.836-2903del