Canonical Allele Identifier: CA386779754

Gene: PTPN11

Linked Data

• dbSNP Id: rs2038714218
• gnomAD v3: 12-112489054-C-T
• gnomAD v4: 12-112489054-C-T
• MyVariant Identifiers: chr12:g.112926858C>T (hg19) ; chr12:g.112489054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489054C>T , CM000674.2:g.112489054C>T	GRCh38
NC_000012.11:g.112926858C>T , CM000674.1:g.112926858C>T	GRCh37
NC_000012.10:g.111411241C>T	NCBI36
NG_007459.1:g.75323C>T , LRG_614:g.75323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1478C>T	ENSP00000491593.2:p.Thr493Ile
ENST00000685487.1:c.1478C>T	ENSP00000508503.1:p.Thr493Ile
ENST00000687624.1:n.143C>T
ENST00000687906.1:c.1364C>T	ENSP00000509536.1:p.Thr455Ile
ENST00000688597.1:c.1224+6849C>T	ENSP00000510628.1:n.1224+6849C>T
ENST00000688701.1:n.722C>T
ENST00000690210.1:c.1478C>T	ENSP00000509272.1:p.Thr493Ile
ENST00000690472.1:n.687C>T
ENST00000692624.1:c.*24C>T	ENSP00000508953.1:n.*24C>T
ENST00000351677.7:c.1478C>T MANE Select	ENSP00000340944.3:p.Thr493Ile
ENST00000351677.6:c.1478C>T	ENSP00000340944.2:p.Thr493Ile
ENST00000635625.1:c.1490C>T	ENSP00000489597.1:p.Thr497Ile
ENST00000635652.1:c.491C>T	ENSP00000489541.1:p.Thr164Ile
NM_002834.3:c.1478C>T , LRG_614t1:c.1478C>T	NP_002825.3:p.Thr493Ile
XM_006719526.1:c.1490C>T	XP_006719589.1:p.Thr497Ile
XM_006719527.1:c.1376C>T	XP_006719590.1:p.Thr459Ile
XM_011538613.1:c.1487C>T	XP_011536915.1:p.Thr496Ile
NM_001330437.1:c.1490C>T	NP_001317366.1:p.Thr497Ile
NM_002834.4:c.1478C>T	NP_002825.3:p.Thr493Ile
XM_011538613.2:c.1487C>T	XP_011536915.1:p.Thr496Ile
XM_017019722.1:c.1475C>T	XP_016875211.1:p.Thr492Ile
NM_001330437.2:c.1490C>T	NP_001317366.1:p.Thr497Ile
NM_001374625.1:c.1475C>T	NP_001361554.1:p.Thr492Ile
NM_002834.5:c.1478C>T MANE Select	NP_002825.3:p.Thr493Ile