Canonical Allele Identifier: CA250563
Gene: PTPRJ HGNC NCBI
COSMIC:
COSM1127775 (not active)
COSM1127776 (not active)
COSM3736043 (not active)
MyVariant.info:
GRCh38 chr11:g.48123823A>C
GRCh37 chr11:g.48145375A>C
Revel Score:
ENST00000278456 0.014
ENST00000418331 (MANE Select) 0.014
ENST00000440289 0.014
gnomAD v2:
11:48145375 A / C
gnomAD v3:
11:48123823 A / C
gnomAD v4:
chr11-48123823-A-C
Joint Max Group AF 0.26308547 (SAS)
Genomes Max Group AF 0.26540952 (EAS)
Exomes Max Group AF 0.26400502 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.48123823A>C , CM000673.2:g.48123823A>C GRCh38
NC_000011.9:g.48145375A>C , CM000673.1:g.48145375A>C GRCh37
NC_000011.8:g.48101951A>C NCBI36
NG_012209.1:g.148266A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698881.1:c.1169A>C ENSP00000514003.1:p.Gln390Pro
ENST00000418331.7:c.827A>C MANE Select ENSP00000400010.2:p.Gln276Pro
ENST00000418331.6:c.827A>C ENSP00000400010.2:p.Gln276Pro
ENST00000440289.6:c.827A>C ENSP00000409733.2:p.Gln276Pro
ENST00000613246.4:c.827A>C ENSP00000477933.1:p.Gln276Pro
ENST00000615445.4:c.827A>C ENSP00000479342.1:p.Gln276Pro
NM_001098503.1:c.827A>C NP_001091973.1:p.Gln276Pro
NM_002843.3:c.827A>C NP_002834.3:p.Gln276Pro
XM_011520249.1:c.860A>C XP_011518551.1:p.Gln287Pro
XR_930883.1:n.1177A>C
XM_017018083.1:c.905A>C XP_016873572.1:p.Gln302Pro
XM_017018084.1:c.848A>C XP_016873573.1:p.Gln283Pro
XM_017018085.1:c.779A>C XP_016873574.1:p.Gln260Pro
XR_930883.2:n.1236A>C
NM_002843.4:c.827A>C MANE Select NP_002834.3:p.Gln276Pro
NM_001098503.2:c.827A>C NP_001091973.1:p.Gln276Pro
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