Canonical Allele Identifier: CA263478
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56181
ClinVar RCV Id: RCV000049592
dbSNP Id: rs386833633
gnomAD v4: 1-40092469-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092469T>A , CM000663.2:g.40092469T>A GRCh38
NC_000001.10:g.40558141T>A , CM000663.1:g.40558141T>A GRCh37
NC_000001.9:g.40330728T>A NCBI36
NG_009192.1:g.10002A>T , LRG_690:g.10002A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.167A>T ENSP00000361865.5:p.Ter56Leu
ENST00000433473.8:c.160A>T ENSP00000394863.4:p.Lys54Ter
ENST00000439754.6:c.163A>T ENSP00000403207.2:p.Lys55Ter
ENST00000449045.7:c.125-2957A>T ENSP00000392293.2:n.125-2957A>T
ENST00000526547.2:c.443A>T
ENST00000527311.7:c.163A>T ENSP00000436695.3:p.Lys55Ter
ENST00000530704.6:c.163A>T ENSP00000431655.1:p.Lys55Ter
ENST00000641083.1:c.141A>T
ENST00000641236.1:n.175A>T
ENST00000641319.1:c.163A>T ENSP00000493128.1:p.Lys55Ter
ENST00000641471.1:c.250A>T ENSP00000493146.1:p.Lys84Ter
ENST00000641548.1:c.*15A>T ENSP00000492984.1:n.*15A>T
ENST00000641691.1:c.*15A>T ENSP00000492910.1:n.*15A>T
ENST00000641924.1:c.124+4646A>T ENSP00000493063.1:n.124+4646A>T
ENST00000642050.2:c.163A>T MANE Select ENSP00000493153.1:p.Lys55Ter
ENST00000372779.8:c.250A>T ENSP00000361865.4:p.Lys84Ter
ENST00000433473.7:c.163A>T ENSP00000394863.3:p.Lys55Ter
ENST00000449045.6:c.125-2957A>T ENSP00000392293.2:n.125-2957A>T
ENST00000526547.1:c.13A>T ENSP00000436481.1:p.Lys5Ter
ENST00000527311.6:c.125-412A>T ENSP00000436695.2:n.125-412A>T
ENST00000529905.5:c.163A>T ENSP00000432053.1:p.Lys55Ter
ENST00000530704.5:c.163A>T ENSP00000431655.1:p.Lys55Ter
NM_000310.3:c.163A>T , LRG_690t1:c.163A>T NP_000301.1:p.Lys55Ter
NM_001142604.1:c.125-2957A>T NP_001136076.1:n.125-2957A>T
XM_005271008.1:c.163A>T XP_005271065.1:p.Lys55Ter
NM_001363695.1:c.163A>T NP_001350624.1:p.Lys55Ter
NM_000310.4:c.163A>T MANE Select NP_000301.1:p.Lys55Ter
NM_001142604.2:c.125-2957A>T NP_001136076.1:n.125-2957A>T
NM_001363695.2:c.163A>T NP_001350624.1:p.Lys55Ter