Canonical Allele Identifier: CA16040731
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371154
ClinVar RCV Id: RCV000411589
dbSNP Id: rs1057517049
MyVariant Identifiers: chr1:g.40557782_40557785dupAAGT (hg19) chr1:g.40557781_40557782insAAGT (hg19) chr1:g.40092110_40092113dupAAGT (hg38) chr1:g.40092109_40092110insAAGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092110_40092113dup , CM000663.2:g.40092110_40092113dup GRCh38
NC_000001.10:g.40557782_40557785dup , CM000663.1:g.40557782_40557785dup GRCh37
NC_000001.9:g.40330369_40330372dup NCBI36
NG_009192.1:g.10358_10361dup , LRG_690:g.10358_10361dup

Transcript Alleles

HGVS Amino-acid change
ENST00000372779.9:c.*130_*133dup ENSP00000361865.5:n.*130_*133dup
ENST00000433473.8:c.291_294dup ENSP00000394863.4:p.Ala99ThrfsTer3
ENST00000439754.6:c.294_297dup ENSP00000403207.2:p.Ala100ThrfsTer3
ENST00000449045.7:c.125-2601_125-2598dup ENSP00000392293.2:n.125-2601_125-2598dup
ENST00000526547.2:c.574_577dup
ENST00000527311.7:c.234+285_234+288dup ENSP00000436695.3:n.234+285_234+288dup
ENST00000530704.6:c.294_297dup ENSP00000431655.1:p.Ala100ThrfsTer3
ENST00000641083.1:c.272_275dup
ENST00000641236.1:n.531_534dup
ENST00000641319.1:c.294_297dup ENSP00000493128.1:p.Ala100ThrfsTer3
ENST00000641471.1:c.381_384dup ENSP00000493146.1:p.Ala129ThrfsTer3
ENST00000641548.1:c.*146_*149dup ENSP00000492984.1:n.*146_*149dup
ENST00000641691.1:c.*146_*149dup ENSP00000492910.1:n.*146_*149dup
ENST00000641924.1:c.124+5002_124+5005dup ENSP00000493063.1:n.124+5002_124+5005dup
ENST00000642050.2:c.294_297dup MANE Select ENSP00000493153.1:p.Ala100ThrfsTer3
ENST00000372779.8:c.381_384dup ENSP00000361865.4:p.Ala129ThrfsTer3
ENST00000433473.7:c.294_297dup ENSP00000394863.3:p.Ala100ThrfsTer3
ENST00000449045.6:c.125-2601_125-2598dup ENSP00000392293.2:n.125-2601_125-2598dup
ENST00000526547.1:c.144_147dup ENSP00000436481.1:p.Ala50ThrfsTer3
ENST00000527311.6:c.125-56_125-53dup ENSP00000436695.2:n.125-56_125-53dup
ENST00000529905.5:c.294_297dup ENSP00000432053.1:p.Ala100ThrfsTer3
ENST00000530704.5:c.294_297dup ENSP00000431655.1:p.Ala100ThrfsTer3
NM_000310.3:c.294_297dup , LRG_690t1:c.294_297dup NP_000301.1:p.Ala100ThrfsTer3
NM_001142604.1:c.125-2601_125-2598dup NP_001136076.1:n.125-2601_125-2598dup
XM_005271008.1:c.294_297dup XP_005271065.1:p.Ala100ThrfsTer3
NM_001363695.1:c.294_297dup NP_001350624.1:p.Ala100ThrfsTer3
NM_000310.4:c.294_297dup MANE Select NP_000301.1:p.Ala100ThrfsTer3
NM_001142604.2:c.125-2601_125-2598dup NP_001136076.1:n.125-2601_125-2598dup
NM_001363695.2:c.294_297dup NP_001350624.1:p.Ala100ThrfsTer3
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