Canonical Allele Identifier: CA254581
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8902
ClinVar RCV Id: RCV000009453
dbSNP Id: rs137852698

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078630A>T , CM000663.2:g.40078630A>T GRCh38
NC_000001.10:g.40544302A>T , CM000663.1:g.40544302A>T GRCh37
NC_000001.9:g.40316889A>T NCBI36
NG_009192.1:g.23841T>A , LRG_690:g.23841T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.653T>A ENSP00000394863.4:p.Leu218Gln
ENST00000439754.6:c.656T>A ENSP00000403207.2:p.Leu219Gln
ENST00000449045.7:c.347T>A ENSP00000392293.2:p.Leu116Gln
ENST00000527311.7:c.425T>A ENSP00000436695.3:p.Leu142Gln
ENST00000530076.6:c.-2T>A ENSP00000434007.1:n.-2T>A
ENST00000530704.6:c.*279T>A ENSP00000431655.1:n.*279T>A
ENST00000641083.1:c.634T>A
ENST00000641236.1:n.893T>A
ENST00000641319.1:c.656T>A ENSP00000493128.1:p.Leu219Gln
ENST00000641381.1:c.149-1717T>A
ENST00000641471.1:c.743T>A ENSP00000493146.1:p.Leu248Gln
ENST00000641691.1:c.*508T>A ENSP00000492910.1:n.*508T>A
ENST00000641924.1:c.*85T>A ENSP00000493063.1:n.*85T>A
ENST00000642050.2:c.656T>A MANE Select ENSP00000493153.1:p.Leu219Gln
ENST00000372775.2:n.53T>A
ENST00000372779.8:c.743T>A ENSP00000361865.4:p.Leu248Gln
ENST00000433473.7:c.656T>A ENSP00000394863.3:p.Leu219Gln
ENST00000439754.5:c.341T>A ENSP00000403207.1:p.Leu114Gln
ENST00000449045.6:c.347T>A ENSP00000392293.2:p.Leu116Gln
ENST00000527311.6:c.431T>A ENSP00000436695.2:p.Leu144Gln
ENST00000529905.5:c.656T>A ENSP00000432053.1:p.Leu219Gln
ENST00000530076.5:c.-2T>A ENSP00000434007.1:n.-2T>A
ENST00000530704.5:c.*279T>A ENSP00000431655.1:n.*279T>A
NM_000310.3:c.656T>A , LRG_690t1:c.656T>A NP_000301.1:p.Leu219Gln
NM_001142604.1:c.347T>A NP_001136076.1:p.Leu116Gln
XM_005271008.1:c.656T>A XP_005271065.1:p.Leu219Gln
NM_001363695.1:c.656T>A NP_001350624.1:p.Leu219Gln
NM_000310.4:c.656T>A MANE Select NP_000301.1:p.Leu219Gln
NM_001142604.2:c.347T>A NP_001136076.1:p.Leu116Gln
NM_001363695.2:c.656T>A NP_001350624.1:p.Leu219Gln