Canonical Allele Identifier: CA250563

Gene: PTPRJ

Linked Data

• ClinVar Variation Id: 8690
• ClinVar RCV Id: RCV000009227 ; RCV001777134 ; RCV002490345 ; RCV003974812
• dbSNP Id: rs1566734
• ExAC: 11:48145375 A / C
• gnomAD v2: 11-48145375-A-C
• gnomAD v3: 11-48123823-A-C
• gnomAD v4: 11-48123823-A-C
• MyVariant Identifiers: chr11:g.48145375A>C (hg19) ; chr11:g.48123823A>C (hg38)
• PubMed: PMID:12089527

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