Canonical Allele Identifier: CA263537
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078642del , CM000663.2:g.40078642del GRCh38
NC_000001.10:g.40544314del , CM000663.1:g.40544314del GRCh37
NC_000001.9:g.40316901del NCBI36
NG_009192.1:g.23829del , LRG_690:g.23829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.641del ENSP00000394863.4:p.Tyr214SerfsTer5
ENST00000439754.6:c.644del ENSP00000403207.2:p.Tyr215SerfsTer5
ENST00000449045.7:c.335del ENSP00000392293.2:p.Tyr112SerfsTer5
ENST00000527311.7:c.413del ENSP00000436695.3:p.Tyr138SerfsTer5
ENST00000530076.6:c.-14del ENSP00000434007.1:n.-14del
ENST00000530704.6:c.*267del ENSP00000431655.1:n.*267del
ENST00000641083.1:c.622del
ENST00000641236.1:n.881del
ENST00000641319.1:c.644del ENSP00000493128.1:p.Tyr215SerfsTer5
ENST00000641381.1:c.149-1729del
ENST00000641471.1:c.731del ENSP00000493146.1:p.Tyr244SerfsTer5
ENST00000641691.1:c.*496del ENSP00000492910.1:n.*496del
ENST00000641924.1:c.*73del ENSP00000493063.1:n.*73del
ENST00000642050.2:c.644del MANE Select ENSP00000493153.1:p.Tyr215SerfsTer5
ENST00000372775.2:n.41del
ENST00000372779.8:c.731del ENSP00000361865.4:p.Tyr244SerfsTer5
ENST00000433473.7:c.644del ENSP00000394863.3:p.Tyr215SerfsTer5
ENST00000439754.5:c.329del ENSP00000403207.1:p.Tyr110SerfsTer5
ENST00000449045.6:c.335del ENSP00000392293.2:p.Tyr112SerfsTer5
ENST00000527311.6:c.419del ENSP00000436695.2:p.Tyr140SerfsTer5
ENST00000529905.5:c.644del ENSP00000432053.1:p.Tyr215SerfsTer5
ENST00000530076.5:c.-14del ENSP00000434007.1:n.-14del
ENST00000530704.5:c.*267del ENSP00000431655.1:n.*267del
NM_000310.3:c.644del , LRG_690t1:c.644del NP_000301.1:p.Tyr215SerfsTer5
NM_001142604.1:c.335del NP_001136076.1:p.Tyr112SerfsTer5
XM_005271008.1:c.644del XP_005271065.1:p.Tyr215SerfsTer5
NM_001363695.1:c.644del NP_001350624.1:p.Tyr215SerfsTer5
NM_000310.4:c.644del MANE Select NP_000301.1:p.Tyr215SerfsTer5
NM_001142604.2:c.335del NP_001136076.1:p.Tyr112SerfsTer5
NM_001363695.2:c.644del NP_001350624.1:p.Tyr215SerfsTer5