Canonical Allele Identifier: CA6798705

Gene: PTPN11

Linked Data

• dbSNP Id: rs755871216
• ExAC: 12:112915796 A / G
• gnomAD v2: 12-112915796-A-G
• gnomAD v3: 12-112477992-A-G
• gnomAD v4: 12-112477992-A-G
• COSMIC: COSM6462308
• MyVariant Identifiers: chr12:g.112915796A>G (hg19) ; chr12:g.112477992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112477992A>G , CM000674.2:g.112477992A>G	GRCh38
NC_000012.11:g.112915796A>G , CM000674.1:g.112915796A>G	GRCh37
NC_000012.10:g.111400179A>G	NCBI36
NG_007459.1:g.64261A>G , LRG_614:g.64261A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1069A>G	ENSP00000491593.2:p.Thr357Ala
ENST00000685487.1:c.1069A>G	ENSP00000508503.1:p.Thr357Ala
ENST00000687906.1:c.955A>G	ENSP00000509536.1:p.Thr319Ala
ENST00000688597.1:c.1069A>G	ENSP00000510628.1:p.Thr357Ala
ENST00000690210.1:c.1069A>G	ENSP00000509272.1:p.Thr357Ala
ENST00000692624.1:c.1069A>G	ENSP00000508953.1:p.Thr357Ala
ENST00000351677.7:c.1069A>G MANE Select	ENSP00000340944.3:p.Thr357Ala
ENST00000351677.6:c.1069A>G	ENSP00000340944.2:p.Thr357Ala
ENST00000392597.5:c.1069A>G	ENSP00000376376.1:p.Thr357Ala
ENST00000635625.1:c.1069A>G	ENSP00000489597.1:p.Thr357Ala
ENST00000635652.1:c.61A>G	ENSP00000489541.1:p.Thr21Ala
NM_002834.3:c.1069A>G , LRG_614t1:c.1069A>G	NP_002825.3:p.Thr357Ala
NM_080601.1:c.1069A>G	NP_542168.1:p.Thr357Ala
XM_006719526.1:c.1069A>G	XP_006719589.1:p.Thr357Ala
XM_006719527.1:c.955A>G	XP_006719590.1:p.Thr319Ala
XM_011538613.1:c.1066A>G	XP_011536915.1:p.Thr356Ala
NM_001330437.1:c.1069A>G	NP_001317366.1:p.Thr357Ala
NM_002834.4:c.1069A>G	NP_002825.3:p.Thr357Ala
NM_080601.2:c.1069A>G	NP_542168.1:p.Thr357Ala
XM_011538613.2:c.1066A>G	XP_011536915.1:p.Thr356Ala
XM_017019722.1:c.1066A>G	XP_016875211.1:p.Thr356Ala
NM_001330437.2:c.1069A>G	NP_001317366.1:p.Thr357Ala
NM_001374625.1:c.1066A>G	NP_001361554.1:p.Thr356Ala
NM_002834.5:c.1069A>G MANE Select	NP_002825.3:p.Thr357Ala
NM_080601.3:c.1069A>G	NP_542168.1:p.Thr357Ala