Canonical Allele Identifier: CA386780034

Gene: PTPN11

Linked Data

• COSMIC: COSM353792
• MyVariant Identifiers: chr12:g.112926942A>T (hg19) ; chr12:g.112489138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489138A>T , CM000674.2:g.112489138A>T	GRCh38
NC_000012.11:g.112926942A>T , CM000674.1:g.112926942A>T	GRCh37
NC_000012.10:g.111411325A>T	NCBI36
NG_007459.1:g.75407A>T , LRG_614:g.75407A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1562A>T	ENSP00000491593.2:p.Tyr521Phe
ENST00000685487.1:c.1562A>T	ENSP00000508503.1:p.Tyr521Phe
ENST00000687624.1:n.227A>T
ENST00000687906.1:c.1448A>T	ENSP00000509536.1:p.Tyr483Phe
ENST00000688597.1:c.1224+6933A>T	ENSP00000510628.1:n.1224+6933A>T
ENST00000688701.1:n.806A>T
ENST00000690210.1:c.1562A>T	ENSP00000509272.1:p.Tyr521Phe
ENST00000690472.1:n.771A>T
ENST00000692624.1:c.*108A>T	ENSP00000508953.1:n.*108A>T
ENST00000351677.7:c.1562A>T MANE Select	ENSP00000340944.3:p.Tyr521Phe
ENST00000351677.6:c.1562A>T	ENSP00000340944.2:p.Tyr521Phe
ENST00000635625.1:c.1574A>T	ENSP00000489597.1:p.Tyr525Phe
ENST00000635652.1:c.575A>T	ENSP00000489541.1:p.Tyr192Phe
NM_002834.3:c.1562A>T , LRG_614t1:c.1562A>T	NP_002825.3:p.Tyr521Phe
XM_006719526.1:c.1574A>T	XP_006719589.1:p.Tyr525Phe
XM_006719527.1:c.1460A>T	XP_006719590.1:p.Tyr487Phe
XM_011538613.1:c.1571A>T	XP_011536915.1:p.Tyr524Phe
NM_001330437.1:c.1574A>T	NP_001317366.1:p.Tyr525Phe
NM_002834.4:c.1562A>T	NP_002825.3:p.Tyr521Phe
XM_011538613.2:c.1571A>T	XP_011536915.1:p.Tyr524Phe
XM_017019722.1:c.1559A>T	XP_016875211.1:p.Tyr520Phe
NM_001330437.2:c.1574A>T	NP_001317366.1:p.Tyr525Phe
NM_001374625.1:c.1559A>T	NP_001361554.1:p.Tyr520Phe
NM_002834.5:c.1562A>T MANE Select	NP_002825.3:p.Tyr521Phe