Canonical Allele Identifier: CA4311683
Gene: PTPN12 HGNC NCBI
COSMIC:
COSM1568868 (not active)
MyVariant.info:
GRCh38 chr7:g.77618504G>A
GRCh37 chr7:g.77247821G>A
Revel Score:
ENST00000248594 (MANE Select) 0.052
ENST00000415482 0.052
ENST00000543073 0.052
ENST00000435495 0.052
gnomAD v2:
7:77247821 G / A
gnomAD v3:
7:77618504 G / A
gnomAD v4:
chr7-77618504-G-A
Joint Max Group AF 0.91023872 (EAS)
Genomes Max Group AF 0.88071763 (EAS)
Exomes Max Group AF 0.91177902 (EAS)
ClinVar RCV:
RCV003982362
ClinVar Variation:
3060850
dbSNP:
9640663
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.77618504G>A , CM000669.2:g.77618504G>A GRCh38
NC_000007.13:g.77247821G>A , CM000669.1:g.77247821G>A GRCh37
NC_000007.12:g.77085757G>A NCBI36
NG_008394.1:g.86049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248594.11:c.964G>A MANE Select ENSP00000248594.6:p.Val322Ile
ENST00000248594.10:c.964G>A ENSP00000248594.6:p.Val322Ile
ENST00000415482.6:c.607G>A ENSP00000392429.2:p.Val203Ile
ENST00000435495.6:c.574G>A ENSP00000397991.2:p.Val192Ile
NM_001131008.1:c.607G>A NP_001124480.1:p.Val203Ile
NM_001131009.1:c.574G>A NP_001124481.1:p.Val192Ile
NM_002835.3:c.964G>A NP_002826.3:p.Val322Ile
XM_005250518.1:c.619G>A XP_005250575.1:p.Val207Ile
XM_006716073.2:c.868G>A XP_006716136.1:p.Val290Ile
XM_011516444.1:c.325G>A XP_011514746.1:p.Val109Ile
XM_005250518.2:c.619G>A XP_005250575.1:p.Val207Ile
XM_006716073.4:c.868G>A XP_006716136.1:p.Val290Ile
XM_017012474.2:c.619G>A XP_016867963.1:p.Val207Ile
XR_001744844.2:n.1321G>A
NM_002835.4:c.964G>A MANE Select NP_002826.3:p.Val322Ile
NM_001131008.2:c.607G>A NP_001124480.1:p.Val203Ile
NM_001131009.2:c.574G>A NP_001124481.1:p.Val192Ile
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