Canonical Allele Identifier: CA261591

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 44613
• ClinVar RCV Id: RCV000037656 ; RCV000159049 ; RCV001002142
• dbSNP Id: rs397516809
• MyVariant Identifiers: chr12:g.112910765G>T (hg19) ; chr12:g.112472961G>T (hg38)
• PubMed: PMID:21407260

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112472961G>T , CM000674.2:g.112472961G>T	GRCh38
NC_000012.11:g.112910765G>T , CM000674.1:g.112910765G>T	GRCh37
NC_000012.10:g.111395148G>T	NCBI36
NG_007459.1:g.59230G>T , LRG_614:g.59230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.774G>T	ENSP00000491593.2:p.Glu258Asp
ENST00000685487.1:c.774G>T	ENSP00000508503.1:p.Glu258Asp
ENST00000687906.1:c.660G>T	ENSP00000509536.1:p.Glu220Asp
ENST00000688597.1:c.774G>T	ENSP00000510628.1:p.Glu258Asp
ENST00000690210.1:c.774G>T	ENSP00000509272.1:p.Glu258Asp
ENST00000692624.1:c.774G>T	ENSP00000508953.1:p.Glu258Asp
ENST00000351677.7:c.774G>T MANE Select	ENSP00000340944.3:p.Glu258Asp
ENST00000351677.6:c.774G>T	ENSP00000340944.2:p.Glu258Asp
ENST00000392597.5:c.774G>T	ENSP00000376376.1:p.Glu258Asp
ENST00000635625.1:c.774G>T	ENSP00000489597.1:p.Glu258Asp
NM_002834.3:c.774G>T , LRG_614t1:c.774G>T	NP_002825.3:p.Glu258Asp
NM_080601.1:c.774G>T	NP_542168.1:p.Glu258Asp
XM_006719526.1:c.774G>T	XP_006719589.1:p.Glu258Asp
XM_006719527.1:c.660G>T	XP_006719590.1:p.Glu220Asp
XM_011538613.1:c.771G>T	XP_011536915.1:p.Glu257Asp
NM_001330437.1:c.774G>T	NP_001317366.1:p.Glu258Asp
NM_002834.4:c.774G>T	NP_002825.3:p.Glu258Asp
NM_080601.2:c.774G>T	NP_542168.1:p.Glu258Asp
XM_011538613.2:c.771G>T	XP_011536915.1:p.Glu257Asp
XM_017019722.1:c.771G>T	XP_016875211.1:p.Glu257Asp
NM_001330437.2:c.774G>T	NP_001317366.1:p.Glu258Asp
NM_001374625.1:c.771G>T	NP_001361554.1:p.Glu257Asp
NM_002834.5:c.774G>T MANE Select	NP_002825.3:p.Glu258Asp
NM_080601.3:c.774G>T	NP_542168.1:p.Glu258Asp