Canonical Allele Identifier: CA261543

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40550
• ClinVar RCV Id: RCV000033536 ; RCV000157010 ; RCV000254684 ; RCV000984919 ; RCV001813257
• dbSNP Id: rs397507539
• ExAC: 12:112926851 C / T
• gnomAD v2: 12-112926851-C-T
• gnomAD v4: 12-112489047-C-T
• COSMIC: COSM13033
• MyVariant Identifiers: chr12:g.112926851C>T (hg19) ; chr12:g.112489047C>T (hg38)
• PubMed: PMID:14982869 ; PMID:15001945 ; PMID:15985475 ; PMID:16358218 ; PMID:17020470

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489047C>T , CM000674.2:g.112489047C>T	GRCh38
NC_000012.11:g.112926851C>T , CM000674.1:g.112926851C>T	GRCh37
NC_000012.10:g.111411234C>T	NCBI36
NG_007459.1:g.75316C>T , LRG_614:g.75316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1471C>T	ENSP00000491593.2:p.Pro491Ser
ENST00000685487.1:c.1471C>T	ENSP00000508503.1:p.Pro491Ser
ENST00000687624.1:n.136C>T
ENST00000687906.1:c.1357C>T	ENSP00000509536.1:p.Pro453Ser
ENST00000688597.1:c.1224+6842C>T	ENSP00000510628.1:n.1224+6842C>T
ENST00000688701.1:n.715C>T
ENST00000690210.1:c.1471C>T	ENSP00000509272.1:p.Pro491Ser
ENST00000690472.1:n.680C>T
ENST00000692624.1:c.*17C>T	ENSP00000508953.1:n.*17C>T
ENST00000351677.7:c.1471C>T MANE Select	ENSP00000340944.3:p.Pro491Ser
ENST00000351677.6:c.1471C>T	ENSP00000340944.2:p.Pro491Ser
ENST00000635625.1:c.1483C>T	ENSP00000489597.1:p.Pro495Ser
ENST00000635652.1:c.484C>T	ENSP00000489541.1:p.Pro162Ser
NM_002834.3:c.1471C>T , LRG_614t1:c.1471C>T	NP_002825.3:p.Pro491Ser
XM_006719526.1:c.1483C>T	XP_006719589.1:p.Pro495Ser
XM_006719527.1:c.1369C>T	XP_006719590.1:p.Pro457Ser
XM_011538613.1:c.1480C>T	XP_011536915.1:p.Pro494Ser
NM_001330437.1:c.1483C>T	NP_001317366.1:p.Pro495Ser
NM_002834.4:c.1471C>T	NP_002825.3:p.Pro491Ser
XM_011538613.2:c.1480C>T	XP_011536915.1:p.Pro494Ser
XM_017019722.1:c.1468C>T	XP_016875211.1:p.Pro490Ser
NM_001330437.2:c.1483C>T	NP_001317366.1:p.Pro495Ser
NM_001374625.1:c.1468C>T	NP_001361554.1:p.Pro490Ser
NM_002834.5:c.1471C>T MANE Select	NP_002825.3:p.Pro491Ser