Canonical Allele Identifier: CA282123

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40547
• ClinVar RCV Id: RCV000033532 ; RCV000231162 ; RCV001804754 ; RCV001813256 ; RCV002390129
• dbSNP Id: rs397507537
• MyVariant Identifiers: chr12:g.112926269A>C (hg19) ; chr12:g.112488465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488465A>C , CM000674.2:g.112488465A>C	GRCh38
NC_000012.11:g.112926269A>C , CM000674.1:g.112926269A>C	GRCh37
NC_000012.10:g.111410652A>C	NCBI36
NG_007459.1:g.74734A>C , LRG_614:g.74734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1402A>C	ENSP00000491593.2:p.Thr468Pro
ENST00000685487.1:c.1402A>C	ENSP00000508503.1:p.Thr468Pro
ENST00000687624.1:n.67A>C
ENST00000687906.1:c.1288A>C	ENSP00000509536.1:p.Thr430Pro
ENST00000688597.1:c.1224+6260A>C	ENSP00000510628.1:n.1224+6260A>C
ENST00000688701.1:n.646A>C
ENST00000690210.1:c.1402A>C	ENSP00000509272.1:p.Thr468Pro
ENST00000690472.1:n.611A>C
ENST00000692624.1:c.1380-559A>C	ENSP00000508953.1:n.1380-559A>C
ENST00000351677.7:c.1402A>C MANE Select	ENSP00000340944.3:p.Thr468Pro
ENST00000351677.6:c.1402A>C	ENSP00000340944.2:p.Thr468Pro
ENST00000635625.1:c.1414A>C	ENSP00000489597.1:p.Thr472Pro
ENST00000635652.1:c.415A>C	ENSP00000489541.1:p.Thr139Pro
NM_002834.3:c.1402A>C , LRG_614t1:c.1402A>C	NP_002825.3:p.Thr468Pro
XM_006719526.1:c.1414A>C	XP_006719589.1:p.Thr472Pro
XM_006719527.1:c.1300A>C	XP_006719590.1:p.Thr434Pro
XM_011538613.1:c.1411A>C	XP_011536915.1:p.Thr471Pro
NM_001330437.1:c.1414A>C	NP_001317366.1:p.Thr472Pro
NM_002834.4:c.1402A>C	NP_002825.3:p.Thr468Pro
XM_011538613.2:c.1411A>C	XP_011536915.1:p.Thr471Pro
XM_017019722.1:c.1399A>C	XP_016875211.1:p.Thr467Pro
NM_001330437.2:c.1414A>C	NP_001317366.1:p.Thr472Pro
NM_001374625.1:c.1399A>C	NP_001361554.1:p.Thr467Pro
NM_002834.5:c.1402A>C MANE Select	NP_002825.3:p.Thr468Pro