Canonical Allele Identifier: CA386780033

Gene: PTPN11

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1562A>G	ENSP00000491593.2:p.Tyr521Cys
ENST00000685487.1:c.1562A>G	ENSP00000508503.1:p.Tyr521Cys
ENST00000687624.1:n.227A>G
ENST00000687906.1:c.1448A>G	ENSP00000509536.1:p.Tyr483Cys
ENST00000688597.1:c.1224+6933A>G	ENSP00000510628.1:n.1224+6933A>G
ENST00000688701.1:n.806A>G
ENST00000690210.1:c.1562A>G	ENSP00000509272.1:p.Tyr521Cys
ENST00000690472.1:n.771A>G
ENST00000692624.1:c.*108A>G	ENSP00000508953.1:n.*108A>G
ENST00000351677.7:c.1562A>G MANE Select	ENSP00000340944.3:p.Tyr521Cys
ENST00000351677.6:c.1562A>G	ENSP00000340944.2:p.Tyr521Cys
ENST00000635625.1:c.1574A>G	ENSP00000489597.1:p.Tyr525Cys
ENST00000635652.1:c.575A>G	ENSP00000489541.1:p.Tyr192Cys
NM_002834.3:c.1562A>G , LRG_614t1:c.1562A>G	NP_002825.3:p.Tyr521Cys
XM_006719526.1:c.1574A>G	XP_006719589.1:p.Tyr525Cys
XM_006719527.1:c.1460A>G	XP_006719590.1:p.Tyr487Cys
XM_011538613.1:c.1571A>G	XP_011536915.1:p.Tyr524Cys
NM_001330437.1:c.1574A>G	NP_001317366.1:p.Tyr525Cys
NM_002834.4:c.1562A>G	NP_002825.3:p.Tyr521Cys
XM_011538613.2:c.1571A>G	XP_011536915.1:p.Tyr524Cys
XM_017019722.1:c.1559A>G	XP_016875211.1:p.Tyr520Cys
NM_001330437.2:c.1574A>G	NP_001317366.1:p.Tyr525Cys
NM_001374625.1:c.1559A>G	NP_001361554.1:p.Tyr520Cys
NM_002834.5:c.1562A>G MANE Select	NP_002825.3:p.Tyr521Cys