Canonical Allele Identifier: CA20999124
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 748131
ClinVar RCV Id: RCV001498424
dbSNP Id: rs769125787
gnomAD v4: 1-40074142-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074142T>C , CM000663.2:g.40074142T>C GRCh38
NC_000001.10:g.40539814T>C , CM000663.1:g.40539814T>C GRCh37
NC_000001.9:g.40312401T>C NCBI36
NG_009192.1:g.28329A>G , LRG_690:g.28329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.837A>G ENSP00000394863.4:p.Leu279=
ENST00000439754.6:c.768A>G ENSP00000403207.2:p.Leu256=
ENST00000449045.7:c.531A>G ENSP00000392293.2:p.Leu177=
ENST00000527311.7:c.609A>G ENSP00000436695.3:p.Leu203=
ENST00000530076.6:c.183A>G ENSP00000434007.1:p.Leu61=
ENST00000530704.6:c.*463A>G ENSP00000431655.1:n.*463A>G
ENST00000641083.1:c.930A>G
ENST00000641236.1:n.1077A>G
ENST00000641319.1:c.*50A>G ENSP00000493128.1:n.*50A>G
ENST00000641381.1:c.262A>G
ENST00000641471.1:c.927A>G ENSP00000493146.1:p.Leu309=
ENST00000641691.1:c.*692A>G ENSP00000492910.1:n.*692A>G
ENST00000641924.1:c.*269A>G ENSP00000493063.1:n.*269A>G
ENST00000642050.2:c.840A>G MANE Select ENSP00000493153.1:p.Leu280=
ENST00000372775.2:n.237A>G
ENST00000433473.7:c.840A>G ENSP00000394863.3:p.Leu280=
ENST00000439754.5:c.453A>G ENSP00000403207.1:p.Leu151=
ENST00000449045.6:c.531A>G ENSP00000392293.2:p.Leu177=
ENST00000529905.5:c.840A>G ENSP00000432053.1:p.Leu280=
ENST00000530076.5:c.183A>G ENSP00000434007.1:p.Leu61=
ENST00000530704.5:c.*463A>G ENSP00000431655.1:n.*463A>G
NM_000310.3:c.840A>G , LRG_690t1:c.840A>G NP_000301.1:p.Leu280=
NM_001142604.1:c.531A>G NP_001136076.1:p.Leu177=
XM_005271008.1:c.768A>G XP_005271065.1:p.Leu256=
NM_001363695.1:c.768A>G NP_001350624.1:p.Leu256=
NM_000310.4:c.840A>G MANE Select NP_000301.1:p.Leu280=
NM_001142604.2:c.531A>G NP_001136076.1:p.Leu177=
NM_001363695.2:c.768A>G NP_001350624.1:p.Leu256=