Canonical Allele Identifier: CA683697781

Gene: PTPN11

Linked Data

• dbSNP Id: rs1352790175
• gnomAD v3: 12-112507282-C-T
• gnomAD v4: 12-112507282-C-T
• MyVariant Identifiers: chr12:g.112945086C>T (hg19) ; chr12:g.112507282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507282C>T , CM000674.2:g.112507282C>T	GRCh38
NC_000012.11:g.112945086C>T , CM000674.1:g.112945086C>T	GRCh37
NC_000012.10:g.111429469C>T	NCBI36
NG_007459.1:g.93551C>T , LRG_614:g.93551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*1433C>T	ENSP00000491593.2:n.*1433C>T
ENST00000685487.1:c.*2474C>T	ENSP00000508503.1:n.*2474C>T
ENST00000687120.1:n.5093C>T
ENST00000687906.1:c.*1490C>T	ENSP00000509536.1:n.*1490C>T
ENST00000688597.1:c.*1490C>T	ENSP00000510628.1:n.*1490C>T
ENST00000688701.1:n.2516C>T
ENST00000690210.1:c.*1490C>T	ENSP00000509272.1:n.*1490C>T
ENST00000690472.1:n.2481C>T
ENST00000692624.1:c.*1818C>T	ENSP00000508953.1:n.*1818C>T
ENST00000351677.7:c.*1490C>T MANE Select	ENSP00000340944.3:n.*1490C>T
ENST00000351677.6:c.*1490C>T	ENSP00000340944.2:n.*1490C>T
NM_002834.3:c.*1490C>T , LRG_614t1:c.*1490C>T	NP_002825.3:n.*1490C>T
XM_006719526.1:c.*1490C>T	XP_006719589.1:n.*1490C>T
XM_006719527.1:c.*1490C>T	XP_006719590.1:n.*1490C>T
XM_011538613.1:c.*1490C>T	XP_011536915.1:n.*1490C>T
NM_001330437.1:c.*1490C>T	NP_001317366.1:n.*1490C>T
NM_002834.4:c.*1490C>T	NP_002825.3:n.*1490C>T
XM_011538613.2:c.*1490C>T	XP_011536915.1:n.*1490C>T
XM_017019722.1:c.*1490C>T	XP_016875211.1:n.*1490C>T
NM_001330437.2:c.*1490C>T	NP_001317366.1:n.*1490C>T
NM_001374625.1:c.*1490C>T	NP_001361554.1:n.*1490C>T
NM_002834.5:c.*1490C>T MANE Select	NP_002825.3:n.*1490C>T