Canonical Allele Identifier: CA4311683

Gene: PTPN12

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