Canonical Allele Identifier: CA403502152
Gene: PTPRS HGNC NCBI

Linked Data

gnomAD v4: 19-5210755-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5210755T>G , CM000681.2:g.5210755T>G GRCh38
NC_000019.9:g.5210766T>G , CM000681.1:g.5210766T>G GRCh37
NC_000019.8:g.5161766T>G NCBI36
NG_033964.1:g.135049A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706768.1:n.595A>C
ENST00000706769.1:n.420A>C
ENST00000262963.11:c.5285A>C MANE Select ENSP00000262963.8:p.Glu1762Ala
ENST00000262963.10:c.3944A>C ENSP00000262963.7:p.Glu1315Ala
ENST00000348075.6:c.5171A>C ENSP00000269907.3:p.Glu1724Ala
ENST00000353284.6:c.3956A>C ENSP00000327313.3:p.Glu1319Ala
ENST00000357368.8:c.5285A>C ENSP00000349932.4:p.Glu1762Ala
ENST00000587303.5:c.5285A>C ENSP00000467537.1:p.Glu1762Ala
ENST00000588012.5:c.5171A>C ENSP00000465443.1:p.Glu1724Ala
ENST00000588552.5:n.4226A>C
ENST00000592099.5:c.3944A>C ENSP00000467398.1:p.Glu1315Ala
NM_002850.3:c.5285A>C NP_002841.3:p.Glu1762Ala
NM_130853.2:c.3944A>C NP_570923.2:p.Glu1315Ala
NM_130854.2:c.5171A>C NP_570924.2:p.Glu1724Ala
NM_130855.2:c.3956A>C NP_570925.2:p.Glu1319Ala
XM_005259600.1:c.5246A>C XP_005259657.1:p.Glu1749Ala
XM_005259601.2:c.5246A>C XP_005259658.1:p.Glu1749Ala
XM_005259606.1:c.5171A>C XP_005259663.1:p.Glu1724Ala
XM_005259607.1:c.5159A>C XP_005259664.1:p.Glu1720Ala
XM_005259609.1:c.3944A>C XP_005259666.1:p.Glu1315Ala
XM_005259610.1:c.3932A>C XP_005259667.1:p.Glu1311Ala
XM_006722808.1:c.5273A>C XP_006722871.1:p.Glu1758Ala
XM_006722809.2:c.5273A>C XP_006722872.1:p.Glu1758Ala
XM_006722810.2:c.5273A>C XP_006722873.1:p.Glu1758Ala
XM_006722811.1:c.5261A>C XP_006722874.1:p.Glu1754Ala
XM_006722812.1:c.5246A>C XP_006722875.1:p.Glu1749Ala
XM_006722814.1:c.5225A>C XP_006722877.1:p.Glu1742Ala
XM_006722815.1:c.5213A>C XP_006722878.1:p.Glu1738Ala
XM_006722817.1:c.5186A>C XP_006722880.1:p.Glu1729Ala
XM_006722818.1:c.4019A>C XP_006722881.1:p.Glu1340Ala
XM_006722819.1:c.4007A>C XP_006722882.1:p.Glu1336Ala
XM_006722820.1:c.3971A>C XP_006722883.1:p.Glu1324Ala
XM_011528157.1:c.3992A>C XP_011526459.1:p.Glu1331Ala
XM_011528158.1:c.2912A>C XP_011526460.1:p.Glu971Ala
XM_005259600.2:c.5246A>C XP_005259657.1:p.Glu1749Ala
XM_005259606.2:c.5171A>C XP_005259663.1:p.Glu1724Ala
XM_005259607.2:c.5159A>C XP_005259664.1:p.Glu1720Ala
XM_011528157.2:c.3992A>C XP_011526459.1:p.Glu1331Ala
XM_011528158.2:c.2912A>C XP_011526460.1:p.Glu971Ala
XM_017027065.1:c.5258A>C XP_016882554.1:p.Glu1753Ala
XM_017027066.1:c.5258A>C XP_016882555.1:p.Glu1753Ala
XM_017027067.1:c.5258A>C XP_016882556.1:p.Glu1753Ala
XM_017027068.1:c.5246A>C XP_016882557.1:p.Glu1749Ala
XM_017027069.1:c.5231A>C XP_016882558.1:p.Glu1744Ala
XM_017027070.1:c.5210A>C XP_016882559.1:p.Glu1737Ala
XM_017027071.1:c.5198A>C XP_016882560.1:p.Glu1733Ala
XM_017027072.1:c.5171A>C XP_016882561.1:p.Glu1724Ala
XM_017027073.1:c.4532A>C XP_016882562.1:p.Glu1511Ala
XM_017027074.1:c.4004A>C XP_016882563.1:p.Glu1335Ala
XM_017027075.1:c.3992A>C XP_016882564.1:p.Glu1331Ala
XM_017027076.1:c.3956A>C XP_016882565.1:p.Glu1319Ala
NM_002850.4:c.5285A>C MANE Select NP_002841.3:p.Glu1762Ala
NM_130853.3:c.3944A>C NP_570923.2:p.Glu1315Ala
NM_130854.3:c.5171A>C NP_570924.2:p.Glu1724Ala
NM_130855.3:c.3956A>C NP_570925.2:p.Glu1319Ala
NM_001394011.1:c.5219A>C NP_001380940.1:p.Glu1740Ala
NM_001394012.1:c.5198A>C NP_001380941.1:p.Glu1733Ala
NM_001394013.1:c.5159A>C NP_001380942.1:p.Glu1720Ala