Canonical Allele Identifier: CA386791536

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 1415481
• ClinVar RCV Id: RCV001933107
• dbSNP Id: rs2038533750
• MyVariant Identifiers: chr12:g.112915766C>A (hg19) ; chr12:g.112477962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112477962C>A , CM000674.2:g.112477962C>A	GRCh38
NC_000012.11:g.112915766C>A , CM000674.1:g.112915766C>A	GRCh37
NC_000012.10:g.111400149C>A	NCBI36
NG_007459.1:g.64231C>A , LRG_614:g.64231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1039C>A	ENSP00000491593.2:p.Gln347Lys
ENST00000685487.1:c.1039C>A	ENSP00000508503.1:p.Gln347Lys
ENST00000687906.1:c.925C>A	ENSP00000509536.1:p.Gln309Lys
ENST00000688597.1:c.1039C>A	ENSP00000510628.1:p.Gln347Lys
ENST00000690210.1:c.1039C>A	ENSP00000509272.1:p.Gln347Lys
ENST00000692624.1:c.1039C>A	ENSP00000508953.1:p.Gln347Lys
ENST00000351677.7:c.1039C>A MANE Select	ENSP00000340944.3:p.Gln347Lys
ENST00000351677.6:c.1039C>A	ENSP00000340944.2:p.Gln347Lys
ENST00000392597.5:c.1039C>A	ENSP00000376376.1:p.Gln347Lys
ENST00000635625.1:c.1039C>A	ENSP00000489597.1:p.Gln347Lys
ENST00000635652.1:c.31C>A	ENSP00000489541.1:p.Gln11Lys
NM_002834.3:c.1039C>A , LRG_614t1:c.1039C>A	NP_002825.3:p.Gln347Lys
NM_080601.1:c.1039C>A	NP_542168.1:p.Gln347Lys
XM_006719526.1:c.1039C>A	XP_006719589.1:p.Gln347Lys
XM_006719527.1:c.925C>A	XP_006719590.1:p.Gln309Lys
XM_011538613.1:c.1036C>A	XP_011536915.1:p.Gln346Lys
NM_001330437.1:c.1039C>A	NP_001317366.1:p.Gln347Lys
NM_002834.4:c.1039C>A	NP_002825.3:p.Gln347Lys
NM_080601.2:c.1039C>A	NP_542168.1:p.Gln347Lys
XM_011538613.2:c.1036C>A	XP_011536915.1:p.Gln346Lys
XM_017019722.1:c.1036C>A	XP_016875211.1:p.Gln346Lys
NM_001330437.2:c.1039C>A	NP_001317366.1:p.Gln347Lys
NM_001374625.1:c.1036C>A	NP_001361554.1:p.Gln346Lys
NM_002834.5:c.1039C>A MANE Select	NP_002825.3:p.Gln347Lys
NM_080601.3:c.1039C>A	NP_542168.1:p.Gln347Lys