Canonical Allele Identifier: CA380376342
Gene: PTPRJ HGNC NCBI

Linked Data

ClinVar Variation Id: 2443229
ClinVar RCV Id: RCV003151621

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.48136044A>T , CM000673.2:g.48136044A>T GRCh38
NC_000011.9:g.48157596A>T , CM000673.1:g.48157596A>T GRCh37
NC_000011.8:g.48114172A>T NCBI36
NG_012209.1:g.160487A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698881.1:c.1963A>T ENSP00000514003.1:p.Ser655Cys
ENST00000418331.7:c.1621A>T MANE Select ENSP00000400010.2:p.Ser541Cys
ENST00000418331.6:c.1621A>T ENSP00000400010.2:p.Ser541Cys
ENST00000613246.4:c.1621A>T ENSP00000477933.1:p.Ser541Cys
ENST00000615445.4:c.1621A>T ENSP00000479342.1:p.Ser541Cys
NM_002843.3:c.1621A>T NP_002834.3:p.Ser541Cys
XM_011520249.1:c.1654A>T XP_011518551.1:p.Ser552Cys
XR_930883.1:n.1971A>T
XM_017018083.1:c.1699A>T XP_016873572.1:p.Ser567Cys
XM_017018084.1:c.1642A>T XP_016873573.1:p.Ser548Cys
XM_017018085.1:c.1573A>T XP_016873574.1:p.Ser525Cys
XR_930883.2:n.2030A>T
NM_002843.4:c.1621A>T MANE Select NP_002834.3:p.Ser541Cys