Canonical Allele Identifier: CA261603

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40533
• ClinVar RCV Id: RCV000033513 ; RCV000037664 ; RCV000212895
• dbSNP Id: rs121918463
• MyVariant Identifiers: chr12:g.112915455T>G (hg19) ; chr12:g.112477651T>G (hg38)
• PubMed: PMID:16358218 ; PMID:19120036

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112477651T>G , CM000674.2:g.112477651T>G	GRCh38
NC_000012.11:g.112915455T>G , CM000674.1:g.112915455T>G	GRCh37
NC_000012.10:g.111399838T>G	NCBI36
NG_007459.1:g.63920T>G , LRG_614:g.63920T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.854T>G	ENSP00000491593.2:p.Phe285Cys
ENST00000685487.1:c.854T>G	ENSP00000508503.1:p.Phe285Cys
ENST00000687906.1:c.740T>G	ENSP00000509536.1:p.Phe247Cys
ENST00000688597.1:c.854T>G	ENSP00000510628.1:p.Phe285Cys
ENST00000690210.1:c.854T>G	ENSP00000509272.1:p.Phe285Cys
ENST00000692624.1:c.854T>G	ENSP00000508953.1:p.Phe285Cys
ENST00000351677.7:c.854T>G MANE Select	ENSP00000340944.3:p.Phe285Cys
ENST00000351677.6:c.854T>G	ENSP00000340944.2:p.Phe285Cys
ENST00000392597.5:c.854T>G	ENSP00000376376.1:p.Phe285Cys
ENST00000635625.1:c.854T>G	ENSP00000489597.1:p.Phe285Cys
NM_002834.3:c.854T>G , LRG_614t1:c.854T>G	NP_002825.3:p.Phe285Cys
NM_080601.1:c.854T>G	NP_542168.1:p.Phe285Cys
XM_006719526.1:c.854T>G	XP_006719589.1:p.Phe285Cys
XM_006719527.1:c.740T>G	XP_006719590.1:p.Phe247Cys
XM_011538613.1:c.851T>G	XP_011536915.1:p.Phe284Cys
NM_001330437.1:c.854T>G	NP_001317366.1:p.Phe285Cys
NM_002834.4:c.854T>G	NP_002825.3:p.Phe285Cys
NM_080601.2:c.854T>G	NP_542168.1:p.Phe285Cys
XM_011538613.2:c.851T>G	XP_011536915.1:p.Phe284Cys
XM_017019722.1:c.851T>G	XP_016875211.1:p.Phe284Cys
NM_001330437.2:c.854T>G	NP_001317366.1:p.Phe285Cys
NM_001374625.1:c.851T>G	NP_001361554.1:p.Phe284Cys
NM_002834.5:c.854T>G MANE Select	NP_002825.3:p.Phe285Cys
NM_080601.3:c.854T>G	NP_542168.1:p.Phe285Cys