This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA5982913
Gene: PTPRJ HGNC NCBI
ClinVar RCV:
RCV004445332
ClinVar Variation:
3149455
dbSNP:
773901570
gnomAD v2:
11:48188774 A / C
gnomAD v3:
11:48167222 A / C
gnomAD v4:
chr11-48167222-A-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr11:g.48167222A>C
GRCh37 chr11:g.48188774A>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.48167222A>C , CM000673.2:g.48167222A>C GRCh38
NC_000011.9:g.48188774A>C , CM000673.1:g.48188774A>C GRCh37
NC_000011.8:g.48145350A>C NCBI36
NG_012209.1:g.191665A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698881.1:c.4216A>C ENSP00000514003.1:p.Asn1406His
ENST00000418331.7:c.3874A>C MANE Select ENSP00000400010.2:p.Asn1292His
ENST00000418331.6:c.3874A>C ENSP00000400010.2:p.Asn1292His
ENST00000613246.4:c.3877A>C ENSP00000477933.1:p.Asn1293His
ENST00000615445.4:c.3889A>C ENSP00000479342.1:p.Asn1297His
NM_002843.3:c.3874A>C NP_002834.3:p.Asn1292His
XM_011520249.1:c.3907A>C XP_011518551.1:p.Asn1303His
XM_017018083.1:c.3952A>C XP_016873572.1:p.Asn1318His
XM_017018084.1:c.3895A>C XP_016873573.1:p.Asn1299His
XM_017018085.1:c.3826A>C XP_016873574.1:p.Asn1276His
NM_002843.4:c.3874A>C MANE Select NP_002834.3:p.Asn1292His
Search 100 bp 5'
Search 100 bp 3'