Canonical Allele Identifier: CA250561
Gene: PTPRJ HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.48123636C>T , CM000673.2:g.48123636C>T GRCh38
NC_000011.9:g.48145188C>T , CM000673.1:g.48145188C>T GRCh37
NC_000011.8:g.48101764C>T NCBI36
NG_012209.1:g.148079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698881.1:c.982C>T ENSP00000514003.1:p.Arg328Cys
ENST00000418331.7:c.640C>T MANE Select ENSP00000400010.2:p.Arg214Cys
ENST00000418331.6:c.640C>T ENSP00000400010.2:p.Arg214Cys
ENST00000440289.6:c.640C>T ENSP00000409733.2:p.Arg214Cys
ENST00000527952.1:c.376C>T ENSP00000435618.1:p.Arg126Cys
ENST00000613246.4:c.640C>T ENSP00000477933.1:p.Arg214Cys
ENST00000615445.4:c.640C>T ENSP00000479342.1:p.Arg214Cys
NM_001098503.1:c.640C>T NP_001091973.1:p.Arg214Cys
NM_002843.3:c.640C>T NP_002834.3:p.Arg214Cys
XM_011520249.1:c.673C>T XP_011518551.1:p.Arg225Cys
XR_930883.1:n.990C>T
XM_017018083.1:c.718C>T XP_016873572.1:p.Arg240Cys
XM_017018084.1:c.661C>T XP_016873573.1:p.Arg221Cys
XM_017018085.1:c.592C>T XP_016873574.1:p.Arg198Cys
XR_930883.2:n.1049C>T
NM_002843.4:c.640C>T MANE Select NP_002834.3:p.Arg214Cys
NM_001098503.2:c.640C>T NP_001091973.1:p.Arg214Cys