Canonical Allele Identifier: CA6798808

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 1122260
• ClinVar RCV Id: RCV001452814 ; RCV004038513
• dbSNP Id: rs143801479
• ExAC: 12:112926955 A / G
• gnomAD v2: 12-112926955-A-G
• gnomAD v3: 12-112489151-A-G
• gnomAD v4: 12-112489151-A-G
• MyVariant Identifiers: chr12:g.112926955A>G (hg19) ; chr12:g.112489151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489151A>G , CM000674.2:g.112489151A>G	GRCh38
NC_000012.11:g.112926955A>G , CM000674.1:g.112926955A>G	GRCh37
NC_000012.10:g.111411338A>G	NCBI36
NG_007459.1:g.75420A>G , LRG_614:g.75420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1575A>G	ENSP00000491593.2:p.Leu525=
ENST00000685487.1:c.1575A>G	ENSP00000508503.1:p.Leu525=
ENST00000687624.1:n.240A>G
ENST00000687906.1:c.1461A>G	ENSP00000509536.1:p.Leu487=
ENST00000688597.1:c.1224+6946A>G	ENSP00000510628.1:n.1224+6946A>G
ENST00000688701.1:n.819A>G
ENST00000690210.1:c.1575A>G	ENSP00000509272.1:p.Leu525=
ENST00000690472.1:n.784A>G
ENST00000692624.1:c.*121A>G	ENSP00000508953.1:n.*121A>G
ENST00000351677.7:c.1575A>G MANE Select	ENSP00000340944.3:p.Leu525=
ENST00000351677.6:c.1575A>G	ENSP00000340944.2:p.Leu525=
ENST00000635625.1:c.1587A>G	ENSP00000489597.1:p.Leu529=
ENST00000635652.1:c.588A>G	ENSP00000489541.1:p.Leu196=
NM_002834.3:c.1575A>G , LRG_614t1:c.1575A>G	NP_002825.3:p.Leu525=
XM_006719526.1:c.1587A>G	XP_006719589.1:p.Leu529=
XM_006719527.1:c.1473A>G	XP_006719590.1:p.Leu491=
XM_011538613.1:c.1584A>G	XP_011536915.1:p.Leu528=
NM_001330437.1:c.1587A>G	NP_001317366.1:p.Leu529=
NM_002834.4:c.1575A>G	NP_002825.3:p.Leu525=
XM_011538613.2:c.1584A>G	XP_011536915.1:p.Leu528=
XM_017019722.1:c.1572A>G	XP_016875211.1:p.Leu524=
NM_001330437.2:c.1587A>G	NP_001317366.1:p.Leu529=
NM_001374625.1:c.1572A>G	NP_001361554.1:p.Leu524=
NM_002834.5:c.1575A>G MANE Select	NP_002825.3:p.Leu525=