Canonical Allele Identifier: CA16040732
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371338
ClinVar RCV Id: RCV000411460
dbSNP Id: rs1057517192

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092451del , CM000663.2:g.40092451del GRCh38
NC_000001.10:g.40558123del , CM000663.1:g.40558123del GRCh37
NC_000001.9:g.40330710del NCBI36
NG_009192.1:g.10023del , LRG_690:g.10023del

Transcript Alleles

HGVS Amino-acid change
ENST00000372779.9:c.*20del ENSP00000361865.5:n.*20del
ENST00000433473.8:c.181del ENSP00000394863.4:p.Ile61TyrfsTer9
ENST00000439754.6:c.184del ENSP00000403207.2:p.Ile62TyrfsTer9
ENST00000449045.7:c.125-2936del ENSP00000392293.2:n.125-2936del
ENST00000526547.2:c.464del
ENST00000527311.7:c.184del ENSP00000436695.3:p.Ile62TyrfsTer9
ENST00000530704.6:c.184del ENSP00000431655.1:p.Ile62TyrfsTer9
ENST00000641083.1:c.162del
ENST00000641236.1:n.196del
ENST00000641319.1:c.184del ENSP00000493128.1:p.Ile62TyrfsTer9
ENST00000641471.1:c.271del ENSP00000493146.1:p.Ile91TyrfsTer9
ENST00000641548.1:c.*36del ENSP00000492984.1:n.*36del
ENST00000641691.1:c.*36del ENSP00000492910.1:n.*36del
ENST00000641924.1:c.124+4667del ENSP00000493063.1:n.124+4667del
ENST00000642050.2:c.184del MANE Select ENSP00000493153.1:p.Ile62TyrfsTer9
ENST00000372779.8:c.271del ENSP00000361865.4:p.Ile91TyrfsTer9
ENST00000433473.7:c.184del ENSP00000394863.3:p.Ile62TyrfsTer9
ENST00000449045.6:c.125-2936del ENSP00000392293.2:n.125-2936del
ENST00000526547.1:c.34del ENSP00000436481.1:p.Ile12TyrfsTer9
ENST00000527311.6:c.125-391del ENSP00000436695.2:n.125-391del
ENST00000529905.5:c.184del ENSP00000432053.1:p.Ile62TyrfsTer9
ENST00000530704.5:c.184del ENSP00000431655.1:p.Ile62TyrfsTer9
NM_000310.3:c.184del , LRG_690t1:c.184del NP_000301.1:p.Ile62TyrfsTer9
NM_001142604.1:c.125-2936del NP_001136076.1:n.125-2936del
XM_005271008.1:c.184del XP_005271065.1:p.Ile62TyrfsTer9
NM_001363695.1:c.184del NP_001350624.1:p.Ile62TyrfsTer9
NM_000310.4:c.184del MANE Select NP_000301.1:p.Ile62TyrfsTer9
NM_001142604.2:c.125-2936del NP_001136076.1:n.125-2936del
NM_001363695.2:c.184del NP_001350624.1:p.Ile62TyrfsTer9