Canonical Allele Identifier: CA386779812

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 633380
• ClinVar RCV Id: RCV000781772
• dbSNP Id: rs1566186813
• MyVariant Identifiers: chr12:g.112926875T>A (hg19) ; chr12:g.112489071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489071T>A , CM000674.2:g.112489071T>A	GRCh38
NC_000012.11:g.112926875T>A , CM000674.1:g.112926875T>A	GRCh37
NC_000012.10:g.111411258T>A	NCBI36
NG_007459.1:g.75340T>A , LRG_614:g.75340T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1495T>A	ENSP00000491593.2:p.Ser499Thr
ENST00000685487.1:c.1495T>A	ENSP00000508503.1:p.Ser499Thr
ENST00000687624.1:n.160T>A
ENST00000687906.1:c.1381T>A	ENSP00000509536.1:p.Ser461Thr
ENST00000688597.1:c.1224+6866T>A	ENSP00000510628.1:n.1224+6866T>A
ENST00000688701.1:n.739T>A
ENST00000690210.1:c.1495T>A	ENSP00000509272.1:p.Ser499Thr
ENST00000690472.1:n.704T>A
ENST00000692624.1:c.*41T>A	ENSP00000508953.1:n.*41T>A
ENST00000351677.7:c.1495T>A MANE Select	ENSP00000340944.3:p.Ser499Thr
ENST00000351677.6:c.1495T>A	ENSP00000340944.2:p.Ser499Thr
ENST00000635625.1:c.1507T>A	ENSP00000489597.1:p.Ser503Thr
ENST00000635652.1:c.508T>A	ENSP00000489541.1:p.Ser170Thr
NM_002834.3:c.1495T>A , LRG_614t1:c.1495T>A	NP_002825.3:p.Ser499Thr
XM_006719526.1:c.1507T>A	XP_006719589.1:p.Ser503Thr
XM_006719527.1:c.1393T>A	XP_006719590.1:p.Ser465Thr
XM_011538613.1:c.1504T>A	XP_011536915.1:p.Ser502Thr
NM_001330437.1:c.1507T>A	NP_001317366.1:p.Ser503Thr
NM_002834.4:c.1495T>A	NP_002825.3:p.Ser499Thr
XM_011538613.2:c.1504T>A	XP_011536915.1:p.Ser502Thr
XM_017019722.1:c.1492T>A	XP_016875211.1:p.Ser498Thr
NM_001330437.2:c.1507T>A	NP_001317366.1:p.Ser503Thr
NM_001374625.1:c.1492T>A	NP_001361554.1:p.Ser498Thr
NM_002834.5:c.1495T>A MANE Select	NP_002825.3:p.Ser499Thr