Canonical Allele Identifier: CA261531

Gene: PTPN11

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112486476G>C , CM000674.2:g.112486476G>C	GRCh38
NC_000012.11:g.112924280G>C , CM000674.1:g.112924280G>C	GRCh37
NC_000012.10:g.111408663G>C	NCBI36
NG_007459.1:g.72745G>C , LRG_614:g.72745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1226G>C	ENSP00000491593.2:p.Gly409Ala
ENST00000685487.1:c.1226G>C	ENSP00000508503.1:p.Gly409Ala
ENST00000687906.1:c.1112G>C	ENSP00000509536.1:p.Gly371Ala
ENST00000688597.1:c.1224+4271G>C	ENSP00000510628.1:n.1224+4271G>C
ENST00000690210.1:c.1226G>C	ENSP00000509272.1:p.Gly409Ala
ENST00000690472.1:n.435G>C
ENST00000692624.1:c.1226G>C	ENSP00000508953.1:p.Gly409Ala
ENST00000351677.7:c.1226G>C MANE Select	ENSP00000340944.3:p.Gly409Ala
ENST00000351677.6:c.1226G>C	ENSP00000340944.2:p.Gly409Ala
ENST00000392597.5:c.1226G>C	ENSP00000376376.1:p.Gly409Ala
ENST00000635625.1:c.1238G>C	ENSP00000489597.1:p.Gly413Ala
ENST00000635652.1:c.239G>C	ENSP00000489541.1:p.Gly80Ala
NM_002834.3:c.1226G>C , LRG_614t1:c.1226G>C	NP_002825.3:p.Gly409Ala
NM_080601.1:c.1226G>C	NP_542168.1:p.Gly409Ala
XM_006719526.1:c.1238G>C	XP_006719589.1:p.Gly413Ala
XM_006719527.1:c.1124G>C	XP_006719590.1:p.Gly375Ala
XM_011538613.1:c.1235G>C	XP_011536915.1:p.Gly412Ala
NM_001330437.1:c.1238G>C	NP_001317366.1:p.Gly413Ala
NM_002834.4:c.1226G>C	NP_002825.3:p.Gly409Ala
NM_080601.2:c.1226G>C	NP_542168.1:p.Gly409Ala
XM_011538613.2:c.1235G>C	XP_011536915.1:p.Gly412Ala
XM_017019722.1:c.1223G>C	XP_016875211.1:p.Gly408Ala
NM_001330437.2:c.1238G>C	NP_001317366.1:p.Gly413Ala
NM_001374625.1:c.1223G>C	NP_001361554.1:p.Gly408Ala
NM_002834.5:c.1226G>C MANE Select	NP_002825.3:p.Gly409Ala
NM_080601.3:c.1226G>C	NP_542168.1:p.Gly409Ala