Canonical Allele Identifier: CA235328

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 13327
• ClinVar RCV Id: RCV000014255 ; RCV000037669 ; RCV000033518 ; RCV000157682 ; RCV000588570 ; RCV000515421 ; RCV001027696 ; RCV001197417 ; RCV001813193 ; RCV004532339
• dbSNP Id: rs121918455
• COSMIC: COSM303867
• MyVariant Identifiers: chr12:g.112915524A>G (hg19) ; chr12:g.112477720A>G (hg38)
• PubMed: PMID:11992261 ; PMID:12717436 ; PMID:12960218 ; PMID:15001945 ; PMID:15248152 ; PMID:15761018 ; PMID:15985475 ; PMID:15987685 ; PMID:15996221 ; PMID:16124853 ; PMID:16358218 ; PMID:16377799 ; PMID:16804314 ; PMID:17020470 ; PMID:17497712 ; PMID:17661820 ; PMID:18678287 ; PMID:18854871 ; PMID:19020799 ; PMID:19077116 ; PMID:21340158 ; PMID:22190897 ; PMID:22465605 ; PMID:22781091 ; PMID:26822237 ; PMID:27479907 ; PMID:27626068

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112477720A>G , CM000674.2:g.112477720A>G	GRCh38
NC_000012.11:g.112915524A>G , CM000674.1:g.112915524A>G	GRCh37
NC_000012.10:g.111399907A>G	NCBI36
NG_007459.1:g.63989A>G , LRG_614:g.63989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.923A>G	ENSP00000491593.2:p.Asn308Ser
ENST00000685487.1:c.923A>G	ENSP00000508503.1:p.Asn308Ser
ENST00000687906.1:c.809A>G	ENSP00000509536.1:p.Asn270Ser
ENST00000688597.1:c.923A>G	ENSP00000510628.1:p.Asn308Ser
ENST00000690210.1:c.923A>G	ENSP00000509272.1:p.Asn308Ser
ENST00000692624.1:c.923A>G	ENSP00000508953.1:p.Asn308Ser
ENST00000351677.7:c.923A>G MANE Select	ENSP00000340944.3:p.Asn308Ser
ENST00000351677.6:c.923A>G	ENSP00000340944.2:p.Asn308Ser
ENST00000392597.5:c.923A>G	ENSP00000376376.1:p.Asn308Ser
ENST00000635625.1:c.923A>G	ENSP00000489597.1:p.Asn308Ser
NM_002834.3:c.923A>G , LRG_614t1:c.923A>G	NP_002825.3:p.Asn308Ser
NM_080601.1:c.923A>G	NP_542168.1:p.Asn308Ser
XM_006719526.1:c.923A>G	XP_006719589.1:p.Asn308Ser
XM_006719527.1:c.809A>G	XP_006719590.1:p.Asn270Ser
XM_011538613.1:c.920A>G	XP_011536915.1:p.Asn307Ser
NM_001330437.1:c.923A>G	NP_001317366.1:p.Asn308Ser
NM_002834.4:c.923A>G	NP_002825.3:p.Asn308Ser
NM_080601.2:c.923A>G	NP_542168.1:p.Asn308Ser
XM_011538613.2:c.920A>G	XP_011536915.1:p.Asn307Ser
XM_017019722.1:c.920A>G	XP_016875211.1:p.Asn307Ser
NM_001330437.2:c.923A>G	NP_001317366.1:p.Asn308Ser
NM_001374625.1:c.920A>G	NP_001361554.1:p.Asn307Ser
NM_002834.5:c.923A>G MANE Select	NP_002825.3:p.Asn308Ser
NM_080601.3:c.923A>G	NP_542168.1:p.Asn308Ser