Canonical Allele Identifier: CA5981927
Gene: PTPRJ HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.48121099A>C , CM000673.2:g.48121099A>C GRCh38
NC_000011.9:g.48142651A>C , CM000673.1:g.48142651A>C GRCh37
NC_000011.8:g.48099227A>C NCBI36
NG_012209.1:g.145542A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698881.1:c.791A>C ENSP00000514003.1:p.Lys264Thr
ENST00000418331.7:c.449A>C MANE Select ENSP00000400010.2:p.Lys150Thr
ENST00000418331.6:c.449A>C ENSP00000400010.2:p.Lys150Thr
ENST00000440289.6:c.449A>C ENSP00000409733.2:p.Lys150Thr
ENST00000526550.1:n.523A>C
ENST00000527952.1:c.353-2514A>C ENSP00000435618.1:n.353-2514A>C
ENST00000534219.5:c.212A>C ENSP00000432686.1:p.Lys71Thr
ENST00000613246.4:c.449A>C ENSP00000477933.1:p.Lys150Thr
ENST00000615445.4:c.449A>C ENSP00000479342.1:p.Lys150Thr
NM_001098503.1:c.449A>C NP_001091973.1:p.Lys150Thr
NM_002843.3:c.449A>C NP_002834.3:p.Lys150Thr
XM_011520249.1:c.482A>C XP_011518551.1:p.Lys161Thr
XR_930883.1:n.799A>C
XM_017018083.1:c.695-2514A>C XP_016873572.1:n.695-2514A>C
XM_017018084.1:c.470A>C XP_016873573.1:p.Lys157Thr
XM_017018085.1:c.401A>C XP_016873574.1:p.Lys134Thr
XR_930883.2:n.858A>C
NM_002843.4:c.449A>C MANE Select NP_002834.3:p.Lys150Thr
NM_001098503.2:c.449A>C NP_001091973.1:p.Lys150Thr