Canonical Allele Identifier: CA380380053

Gene: PTPRJ

Linked Data

• ClinVar Variation Id: 3149445
• ClinVar RCV Id: RCV004445322
• gnomAD v4: 11-48139717-C-T
• MyVariant Identifiers: chr11:g.48161269C>T (hg19) ; chr11:g.48139717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.48139717C>T , CM000673.2:g.48139717C>T	GRCh38
NC_000011.9:g.48161269C>T , CM000673.1:g.48161269C>T	GRCh37
NC_000011.8:g.48117845C>T	NCBI36
NG_012209.1:g.164160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698881.1:c.2726C>T	ENSP00000514003.1:p.Thr909Ile
ENST00000418331.7:c.2384C>T MANE Select	ENSP00000400010.2:p.Thr795Ile
ENST00000418331.6:c.2384C>T	ENSP00000400010.2:p.Thr795Ile
ENST00000613246.4:c.2384C>T	ENSP00000477933.1:p.Thr795Ile
ENST00000615445.4:c.2384C>T	ENSP00000479342.1:p.Thr795Ile
NM_002843.3:c.2384C>T	NP_002834.3:p.Thr795Ile
XM_011520249.1:c.2417C>T	XP_011518551.1:p.Thr806Ile
XR_930883.1:n.2734C>T
XM_017018083.1:c.2462C>T	XP_016873572.1:p.Thr821Ile
XM_017018084.1:c.2405C>T	XP_016873573.1:p.Thr802Ile
XM_017018085.1:c.2336C>T	XP_016873574.1:p.Thr779Ile
XR_930883.2:n.2793C>T
NM_002843.4:c.2384C>T MANE Select	NP_002834.3:p.Thr795Ile