Canonical Allele Identifier: CA367806856
Gene: PTPN12 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.77618504G>C
GRCh37 chr7:g.77247821G>C
Revel Score:
ENST00000248594 (MANE Select) 0.019
ENST00000415482 0.019
ENST00000543073 0.019
ENST00000435495 0.019
gnomAD v2:
7:77247821 G / C
gnomAD v4:
chr7-77618504-G-C
Joint Max Group AF 0.00000361 (NFE)
Exomes Max Group AF 0.00000384 (NFE)
dbSNP:
9640663
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000248594.11:c.964G>C MANE Select ENSP00000248594.6:p.Val322Leu
ENST00000248594.10:c.964G>C ENSP00000248594.6:p.Val322Leu
ENST00000415482.6:c.607G>C ENSP00000392429.2:p.Val203Leu
ENST00000435495.6:c.574G>C ENSP00000397991.2:p.Val192Leu
NM_001131008.1:c.607G>C NP_001124480.1:p.Val203Leu
NM_001131009.1:c.574G>C NP_001124481.1:p.Val192Leu
NM_002835.3:c.964G>C NP_002826.3:p.Val322Leu
XM_005250518.1:c.619G>C XP_005250575.1:p.Val207Leu
XM_006716073.2:c.868G>C XP_006716136.1:p.Val290Leu
XM_011516444.1:c.325G>C XP_011514746.1:p.Val109Leu
XM_005250518.2:c.619G>C XP_005250575.1:p.Val207Leu
XM_006716073.4:c.868G>C XP_006716136.1:p.Val290Leu
XM_017012474.2:c.619G>C XP_016867963.1:p.Val207Leu
XR_001744844.2:n.1321G>C
NM_002835.4:c.964G>C MANE Select NP_002826.3:p.Val322Leu
NM_001131008.2:c.607G>C NP_001124480.1:p.Val203Leu
NM_001131009.2:c.574G>C NP_001124481.1:p.Val192Leu
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