Canonical Allele Identifier: CA386777846

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 2582571
• ClinVar RCV Id: RCV003333581 ; RCV003333582 ; RCV003333580
• dbSNP Id: rs1555267558
• COSMIC: COSM13029
• MyVariant Identifiers: chr12:g.112888197T>A (hg19) ; chr12:g.112450393T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450393T>A , CM000674.2:g.112450393T>A	GRCh38
NC_000012.11:g.112888197T>A , CM000674.1:g.112888197T>A	GRCh37
NC_000012.10:g.111372580T>A	NCBI36
NG_007459.1:g.36662T>A , LRG_614:g.36662T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.213T>A	ENSP00000491593.2:p.Phe71Leu
ENST00000685487.1:c.213T>A	ENSP00000508503.1:p.Phe71Leu
ENST00000687906.1:c.213T>A	ENSP00000509536.1:p.Phe71Leu
ENST00000688597.1:c.213T>A	ENSP00000510628.1:p.Phe71Leu
ENST00000690210.1:c.213T>A	ENSP00000509272.1:p.Phe71Leu
ENST00000692624.1:c.213T>A	ENSP00000508953.1:p.Phe71Leu
ENST00000351677.7:c.213T>A MANE Select	ENSP00000340944.3:p.Phe71Leu
ENST00000639857.1:c.213T>A	ENSP00000491593.1:p.Phe71Leu
ENST00000351677.6:c.213T>A	ENSP00000340944.2:p.Phe71Leu
ENST00000392597.5:c.213T>A	ENSP00000376376.1:p.Phe71Leu
ENST00000635625.1:c.213T>A	ENSP00000489597.1:p.Phe71Leu
NM_002834.3:c.213T>A , LRG_614t1:c.213T>A	NP_002825.3:p.Phe71Leu
NM_080601.1:c.213T>A	NP_542168.1:p.Phe71Leu
XM_006719526.1:c.213T>A	XP_006719589.1:p.Phe71Leu
XM_006719527.1:c.213T>A	XP_006719590.1:p.Phe71Leu
XM_011538613.1:c.210T>A	XP_011536915.1:p.Phe70Leu
NM_001330437.1:c.213T>A	NP_001317366.1:p.Phe71Leu
NM_002834.4:c.213T>A	NP_002825.3:p.Phe71Leu
NM_080601.2:c.213T>A	NP_542168.1:p.Phe71Leu
XM_011538613.2:c.210T>A	XP_011536915.1:p.Phe70Leu
XM_017019722.1:c.210T>A	XP_016875211.1:p.Phe70Leu
NM_001330437.2:c.213T>A	NP_001317366.1:p.Phe71Leu
NM_001374625.1:c.210T>A	NP_001361554.1:p.Phe70Leu
NM_002834.5:c.213T>A MANE Select	NP_002825.3:p.Phe71Leu
NM_080601.3:c.213T>A	NP_542168.1:p.Phe71Leu