Canonical Allele Identifier: CA180706

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 177754
• ClinVar RCV Id: RCV000154367 ; RCV000417864 ; RCV000425277 ; RCV000435950 ; RCV000443279 ; RCV000680626 ; RCV000824740 ; RCV000995620 ; RCV001813395
• dbSNP Id: rs121918453
• COSMIC: COSM13014
• MyVariant Identifiers: chr12:g.112888198G>A (hg19) ; chr12:g.112450394G>A (hg38)
• PubMed: PMID:12717436 ; PMID:14644997 ; PMID:15928039 ; PMID:16358218 ; PMID:19047918 ; PMID:26619011 ; PMID:28098151

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450394G>A , CM000674.2:g.112450394G>A	GRCh38
NC_000012.11:g.112888198G>A , CM000674.1:g.112888198G>A	GRCh37
NC_000012.10:g.111372581G>A	NCBI36
NG_007459.1:g.36663G>A , LRG_614:g.36663G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.214G>A	ENSP00000491593.2:p.Ala72Thr
ENST00000685487.1:c.214G>A	ENSP00000508503.1:p.Ala72Thr
ENST00000687906.1:c.214G>A	ENSP00000509536.1:p.Ala72Thr
ENST00000688597.1:c.214G>A	ENSP00000510628.1:p.Ala72Thr
ENST00000690210.1:c.214G>A	ENSP00000509272.1:p.Ala72Thr
ENST00000692624.1:c.214G>A	ENSP00000508953.1:p.Ala72Thr
ENST00000351677.7:c.214G>A MANE Select	ENSP00000340944.3:p.Ala72Thr
ENST00000639857.1:c.214G>A	ENSP00000491593.1:p.Ala72Thr
ENST00000351677.6:c.214G>A	ENSP00000340944.2:p.Ala72Thr
ENST00000392597.5:c.214G>A	ENSP00000376376.1:p.Ala72Thr
ENST00000635625.1:c.214G>A	ENSP00000489597.1:p.Ala72Thr
NM_002834.3:c.214G>A , LRG_614t1:c.214G>A	NP_002825.3:p.Ala72Thr
NM_080601.1:c.214G>A	NP_542168.1:p.Ala72Thr
XM_006719526.1:c.214G>A	XP_006719589.1:p.Ala72Thr
XM_006719527.1:c.214G>A	XP_006719590.1:p.Ala72Thr
XM_011538613.1:c.211G>A	XP_011536915.1:p.Ala71Thr
NM_001330437.1:c.214G>A	NP_001317366.1:p.Ala72Thr
NM_002834.4:c.214G>A	NP_002825.3:p.Ala72Thr
NM_080601.2:c.214G>A	NP_542168.1:p.Ala72Thr
XM_011538613.2:c.211G>A	XP_011536915.1:p.Ala71Thr
XM_017019722.1:c.211G>A	XP_016875211.1:p.Ala71Thr
NM_001330437.2:c.214G>A	NP_001317366.1:p.Ala72Thr
NM_001374625.1:c.211G>A	NP_001361554.1:p.Ala71Thr
NM_002834.5:c.214G>A MANE Select	NP_002825.3:p.Ala72Thr
NM_080601.3:c.214G>A	NP_542168.1:p.Ala72Thr