Canonical Allele Identifier: CA386779842

Gene: PTPN11

Linked Data

• dbSNP Id: rs121918458
• COSMIC: COSM13020
• MyVariant Identifiers: chr12:g.112926884T>C (hg19) ; chr12:g.112489080T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489080T>C , CM000674.2:g.112489080T>C	GRCh38
NC_000012.11:g.112926884T>C , CM000674.1:g.112926884T>C	GRCh37
NC_000012.10:g.111411267T>C	NCBI36
NG_007459.1:g.75349T>C , LRG_614:g.75349T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1504T>C	ENSP00000491593.2:p.Ser502Pro
ENST00000685487.1:c.1504T>C	ENSP00000508503.1:p.Ser502Pro
ENST00000687624.1:n.169T>C
ENST00000687906.1:c.1390T>C	ENSP00000509536.1:p.Ser464Pro
ENST00000688597.1:c.1224+6875T>C	ENSP00000510628.1:n.1224+6875T>C
ENST00000688701.1:n.748T>C
ENST00000690210.1:c.1504T>C	ENSP00000509272.1:p.Ser502Pro
ENST00000690472.1:n.713T>C
ENST00000692624.1:c.*50T>C	ENSP00000508953.1:n.*50T>C
ENST00000351677.7:c.1504T>C MANE Select	ENSP00000340944.3:p.Ser502Pro
ENST00000351677.6:c.1504T>C	ENSP00000340944.2:p.Ser502Pro
ENST00000635625.1:c.1516T>C	ENSP00000489597.1:p.Ser506Pro
ENST00000635652.1:c.517T>C	ENSP00000489541.1:p.Ser173Pro
NM_002834.3:c.1504T>C , LRG_614t1:c.1504T>C	NP_002825.3:p.Ser502Pro
XM_006719526.1:c.1516T>C	XP_006719589.1:p.Ser506Pro
XM_006719527.1:c.1402T>C	XP_006719590.1:p.Ser468Pro
XM_011538613.1:c.1513T>C	XP_011536915.1:p.Ser505Pro
NM_001330437.1:c.1516T>C	NP_001317366.1:p.Ser506Pro
NM_002834.4:c.1504T>C	NP_002825.3:p.Ser502Pro
XM_011538613.2:c.1513T>C	XP_011536915.1:p.Ser505Pro
XM_017019722.1:c.1501T>C	XP_016875211.1:p.Ser501Pro
NM_001330437.2:c.1516T>C	NP_001317366.1:p.Ser506Pro
NM_001374625.1:c.1501T>C	NP_001361554.1:p.Ser501Pro
NM_002834.5:c.1504T>C MANE Select	NP_002825.3:p.Ser502Pro