Canonical Allele Identifier: CA375126444
Gene: PTPA HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129131586C>A , CM000671.2:g.129131586C>A GRCh38
NC_000009.11:g.131893865C>A , CM000671.1:g.131893865C>A GRCh37
NC_000009.10:g.130933686C>A NCBI36
NG_029370.1:g.25638C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337738.6:c.512C>A ENSP00000337448.1:p.Ala171Asp
ENST00000358994.9:c.557C>A ENSP00000351885.5:p.Ala186Asp
ENST00000393370.7:c.407C>A MANE Select ENSP00000377036.2:p.Ala136Asp
ENST00000455292.6:c.662C>A ENSP00000395499.2:p.Ala221Asp
ENST00000337738.5:c.512C>A ENSP00000337448.1:p.Ala171Asp
ENST00000347048.8:c.130-10859C>A ENSP00000337412.4:n.130-10859C>A
ENST00000348141.9:c.425C>A ENSP00000335200.6:p.Ala142Asp
ENST00000355007.7:c.281C>A ENSP00000347109.3:p.Ala94Asp
ENST00000357197.8:c.320C>A ENSP00000349726.4:p.Ala107Asp
ENST00000358994.8:c.407C>A ENSP00000351885.4:p.Ala136Asp
ENST00000393370.6:c.407C>A ENSP00000377036.2:p.Ala136Asp
ENST00000414331.5:c.296C>A ENSP00000399069.1:p.Ala99Asp
ENST00000417504.5:c.476C>A ENSP00000400314.1:p.Ala159Asp
ENST00000417728.5:c.302C>A ENSP00000403542.1:p.Ala101Asp
ENST00000445241.5:c.512C>A ENSP00000406997.1:p.Ala171Asp
ENST00000452489.6:c.302C>A ENSP00000394338.3:p.Ala101Asp
ENST00000453358.5:c.302C>A ENSP00000393092.1:p.Ala101Asp
ENST00000455292.5:c.512C>A ENSP00000395499.1:p.Ala171Asp
NM_001193397.1:c.302C>A NP_001180326.1:p.Ala101Asp
NM_001271832.1:c.320C>A NP_001258761.1:p.Ala107Asp
NM_021131.4:c.407C>A NP_066954.2:p.Ala136Asp
NM_178000.2:c.407C>A NP_821067.1:p.Ala136Asp
NM_178001.2:c.512C>A NP_821068.1:p.Ala171Asp
NM_178003.2:c.281C>A NP_821070.1:p.Ala94Asp
XM_011518834.1:c.557C>A XP_011517136.1:p.Ala186Asp
XM_011518835.1:c.512C>A XP_011517137.1:p.Ala171Asp
XM_011518836.1:c.470C>A XP_011517138.1:p.Ala157Asp
XM_011518837.1:c.512C>A XP_011517139.1:p.Ala171Asp
XM_011518838.1:c.470C>A XP_011517140.1:p.Ala157Asp
XM_011518834.2:c.557C>A XP_011517136.1:p.Ala186Asp
XM_011518835.2:c.512C>A XP_011517137.1:p.Ala171Asp
XM_011518836.2:c.470C>A XP_011517138.1:p.Ala157Asp
XM_011518837.2:c.512C>A XP_011517139.1:p.Ala171Asp
XM_011518838.2:c.470C>A XP_011517140.1:p.Ala157Asp
XM_017014888.2:c.407C>A XP_016870377.1:p.Ala136Asp
NM_021131.5:c.407C>A NP_066954.2:p.Ala136Asp
NM_178000.3:c.407C>A MANE Select NP_821067.1:p.Ala136Asp
NM_178003.3:c.281C>A NP_821070.1:p.Ala94Asp
NM_001193397.2:c.302C>A NP_001180326.1:p.Ala101Asp
NM_001271832.2:c.320C>A NP_001258761.1:p.Ala107Asp
NM_178001.3:c.512C>A NP_821068.1:p.Ala171Asp