Canonical Allele Identifier: CA386778245

Gene: PTPN11

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488466C>A , CM000674.2:g.112488466C>A	GRCh38
NC_000012.11:g.112926270C>A , CM000674.1:g.112926270C>A	GRCh37
NC_000012.10:g.111410653C>A	NCBI36
NG_007459.1:g.74735C>A , LRG_614:g.74735C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1403C>A	ENSP00000491593.2:p.Thr468Lys
ENST00000685487.1:c.1403C>A	ENSP00000508503.1:p.Thr468Lys
ENST00000687624.1:n.68C>A
ENST00000687906.1:c.1289C>A	ENSP00000509536.1:p.Thr430Lys
ENST00000688597.1:c.1224+6261C>A	ENSP00000510628.1:n.1224+6261C>A
ENST00000688701.1:n.647C>A
ENST00000690210.1:c.1403C>A	ENSP00000509272.1:p.Thr468Lys
ENST00000690472.1:n.612C>A
ENST00000692624.1:c.1380-558C>A	ENSP00000508953.1:n.1380-558C>A
ENST00000351677.7:c.1403C>A MANE Select	ENSP00000340944.3:p.Thr468Lys
ENST00000351677.6:c.1403C>A	ENSP00000340944.2:p.Thr468Lys
ENST00000635625.1:c.1415C>A	ENSP00000489597.1:p.Thr472Lys
ENST00000635652.1:c.416C>A	ENSP00000489541.1:p.Thr139Lys
NM_002834.3:c.1403C>A , LRG_614t1:c.1403C>A	NP_002825.3:p.Thr468Lys
XM_006719526.1:c.1415C>A	XP_006719589.1:p.Thr472Lys
XM_006719527.1:c.1301C>A	XP_006719590.1:p.Thr434Lys
XM_011538613.1:c.1412C>A	XP_011536915.1:p.Thr471Lys
NM_001330437.1:c.1415C>A	NP_001317366.1:p.Thr472Lys
NM_002834.4:c.1403C>A	NP_002825.3:p.Thr468Lys
XM_011538613.2:c.1412C>A	XP_011536915.1:p.Thr471Lys
XM_017019722.1:c.1400C>A	XP_016875211.1:p.Thr467Lys
NM_001330437.2:c.1415C>A	NP_001317366.1:p.Thr472Lys
NM_001374625.1:c.1400C>A	NP_001361554.1:p.Thr467Lys
NM_002834.5:c.1403C>A MANE Select	NP_002825.3:p.Thr468Lys