Canonical Allele Identifier: CA6798812

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 488167
• ClinVar RCV Id: RCV000578031 ; RCV000577953 ; RCV001860000 ; RCV003159973 ; RCV000578108 ; RCV001558688
• dbSNP Id: rs142606486
• ExAC: 12:112926983 C / A
• gnomAD v2: 12-112926983-C-A
• gnomAD v4: 12-112489179-C-A
• MyVariant Identifiers: chr12:g.112926983C>A (hg19) ; chr12:g.112489179C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489179C>A , CM000674.2:g.112489179C>A	GRCh38
NC_000012.11:g.112926983C>A , CM000674.1:g.112926983C>A	GRCh37
NC_000012.10:g.111411366C>A	NCBI36
NG_007459.1:g.75448C>A , LRG_614:g.75448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1599+4C>A	ENSP00000491593.2:n.1599+4C>A
ENST00000685487.1:c.1603C>A	ENSP00000508503.1:p.Pro535Thr
ENST00000687624.1:n.268C>A
ENST00000687906.1:c.1485+4C>A	ENSP00000509536.1:n.1485+4C>A
ENST00000688597.1:c.1224+6974C>A	ENSP00000510628.1:n.1224+6974C>A
ENST00000688701.1:n.843+4C>A
ENST00000690210.1:c.1599+4C>A	ENSP00000509272.1:n.1599+4C>A
ENST00000690472.1:n.808+4C>A
ENST00000692624.1:c.*145+4C>A	ENSP00000508953.1:n.*145+4C>A
ENST00000351677.7:c.1599+4C>A MANE Select	ENSP00000340944.3:n.1599+4C>A
ENST00000351677.6:c.1599+4C>A	ENSP00000340944.2:n.1599+4C>A
ENST00000635625.1:c.1611+4C>A	ENSP00000489597.1:n.1611+4C>A
NM_002834.3:c.1599+4C>A , LRG_614t1:c.1599+4C>A	NP_002825.3:n.1599+4C>A
XM_006719526.1:c.1611+4C>A	XP_006719589.1:n.1611+4C>A
XM_006719527.1:c.1497+4C>A	XP_006719590.1:n.1497+4C>A
XM_011538613.1:c.1608+4C>A	XP_011536915.1:n.1608+4C>A
NM_001330437.1:c.1611+4C>A	NP_001317366.1:n.1611+4C>A
NM_002834.4:c.1599+4C>A	NP_002825.3:n.1599+4C>A
XM_011538613.2:c.1608+4C>A	XP_011536915.1:n.1608+4C>A
XM_017019722.1:c.1596+4C>A	XP_016875211.1:n.1596+4C>A
NM_001330437.2:c.1611+4C>A	NP_001317366.1:n.1611+4C>A
NM_001374625.1:c.1596+4C>A	NP_001361554.1:n.1596+4C>A
NM_002834.5:c.1599+4C>A MANE Select	NP_002825.3:n.1599+4C>A