Canonical Allele Identifier: CA380370749
Gene: PTPRJ HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.48123839G>C , CM000673.2:g.48123839G>C GRCh38
NC_000011.9:g.48145391G>C , CM000673.1:g.48145391G>C GRCh37
NC_000011.8:g.48101967G>C NCBI36
NG_012209.1:g.148282G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698881.1:c.1185G>C ENSP00000514003.1:p.Lys395Asn
ENST00000418331.7:c.843G>C MANE Select ENSP00000400010.2:p.Lys281Asn
ENST00000418331.6:c.843G>C ENSP00000400010.2:p.Lys281Asn
ENST00000440289.6:c.843G>C ENSP00000409733.2:p.Lys281Asn
ENST00000613246.4:c.843G>C ENSP00000477933.1:p.Lys281Asn
ENST00000615445.4:c.843G>C ENSP00000479342.1:p.Lys281Asn
NM_001098503.1:c.843G>C NP_001091973.1:p.Lys281Asn
NM_002843.3:c.843G>C NP_002834.3:p.Lys281Asn
XM_011520249.1:c.876G>C XP_011518551.1:p.Lys292Asn
XR_930883.1:n.1193G>C
XM_017018083.1:c.921G>C XP_016873572.1:p.Lys307Asn
XM_017018084.1:c.864G>C XP_016873573.1:p.Lys288Asn
XM_017018085.1:c.795G>C XP_016873574.1:p.Lys265Asn
XR_930883.2:n.1252G>C
NM_002843.4:c.843G>C MANE Select NP_002834.3:p.Lys281Asn
NM_001098503.2:c.843G>C NP_001091973.1:p.Lys281Asn