Canonical Allele Identifier: CA386779958

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 2453878
• ClinVar RCV Id: RCV003188013
• MyVariant Identifiers: chr12:g.112926920A>G (hg19) ; chr12:g.112489116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489116A>G , CM000674.2:g.112489116A>G	GRCh38
NC_000012.11:g.112926920A>G , CM000674.1:g.112926920A>G	GRCh37
NC_000012.10:g.111411303A>G	NCBI36
NG_007459.1:g.75385A>G , LRG_614:g.75385A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1540A>G	ENSP00000491593.2:p.Ile514Val
ENST00000685487.1:c.1540A>G	ENSP00000508503.1:p.Ile514Val
ENST00000687624.1:n.205A>G
ENST00000687906.1:c.1426A>G	ENSP00000509536.1:p.Ile476Val
ENST00000688597.1:c.1224+6911A>G	ENSP00000510628.1:n.1224+6911A>G
ENST00000688701.1:n.784A>G
ENST00000690210.1:c.1540A>G	ENSP00000509272.1:p.Ile514Val
ENST00000690472.1:n.749A>G
ENST00000692624.1:c.*86A>G	ENSP00000508953.1:n.*86A>G
ENST00000351677.7:c.1540A>G MANE Select	ENSP00000340944.3:p.Ile514Val
ENST00000351677.6:c.1540A>G	ENSP00000340944.2:p.Ile514Val
ENST00000635625.1:c.1552A>G	ENSP00000489597.1:p.Ile518Val
ENST00000635652.1:c.553A>G	ENSP00000489541.1:p.Ile185Val
NM_002834.3:c.1540A>G , LRG_614t1:c.1540A>G	NP_002825.3:p.Ile514Val
XM_006719526.1:c.1552A>G	XP_006719589.1:p.Ile518Val
XM_006719527.1:c.1438A>G	XP_006719590.1:p.Ile480Val
XM_011538613.1:c.1549A>G	XP_011536915.1:p.Ile517Val
NM_001330437.1:c.1552A>G	NP_001317366.1:p.Ile518Val
NM_002834.4:c.1540A>G	NP_002825.3:p.Ile514Val
XM_011538613.2:c.1549A>G	XP_011536915.1:p.Ile517Val
XM_017019722.1:c.1537A>G	XP_016875211.1:p.Ile513Val
NM_001330437.2:c.1552A>G	NP_001317366.1:p.Ile518Val
NM_001374625.1:c.1537A>G	NP_001361554.1:p.Ile513Val
NM_002834.5:c.1540A>G MANE Select	NP_002825.3:p.Ile514Val