Canonical Allele Identifier: CA273717

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112486527A>C , CM000674.2:g.112486527A>C	GRCh38
NC_000012.11:g.112924331A>C , CM000674.1:g.112924331A>C	GRCh37
NC_000012.10:g.111408714A>C	NCBI36
NG_007459.1:g.72796A>C , LRG_614:g.72796A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1277A>C	ENSP00000491593.2:p.His426Pro
ENST00000685487.1:c.1277A>C	ENSP00000508503.1:p.His426Pro
ENST00000687906.1:c.1163A>C	ENSP00000509536.1:p.His388Pro
ENST00000688597.1:c.1224+4322A>C	ENSP00000510628.1:n.1224+4322A>C
ENST00000690210.1:c.1277A>C	ENSP00000509272.1:p.His426Pro
ENST00000690472.1:n.486A>C
ENST00000692624.1:c.1277A>C	ENSP00000508953.1:p.His426Pro
ENST00000351677.7:c.1277A>C MANE Select	ENSP00000340944.3:p.His426Pro
ENST00000351677.6:c.1277A>C	ENSP00000340944.2:p.His426Pro
ENST00000392597.5:c.1277A>C	ENSP00000376376.1:p.His426Pro
ENST00000635625.1:c.1289A>C	ENSP00000489597.1:p.His430Pro
ENST00000635652.1:c.290A>C	ENSP00000489541.1:p.His97Pro
NM_002834.3:c.1277A>C , LRG_614t1:c.1277A>C	NP_002825.3:p.His426Pro
NM_080601.1:c.1277A>C	NP_542168.1:p.His426Pro
XM_006719526.1:c.1289A>C	XP_006719589.1:p.His430Pro
XM_006719527.1:c.1175A>C	XP_006719590.1:p.His392Pro
XM_011538613.1:c.1286A>C	XP_011536915.1:p.His429Pro
NM_001330437.1:c.1289A>C	NP_001317366.1:p.His430Pro
NM_002834.4:c.1277A>C	NP_002825.3:p.His426Pro
NM_080601.2:c.1277A>C	NP_542168.1:p.His426Pro
XM_011538613.2:c.1286A>C	XP_011536915.1:p.His429Pro
XM_017019722.1:c.1274A>C	XP_016875211.1:p.His425Pro
NM_001330437.2:c.1289A>C	NP_001317366.1:p.His430Pro
NM_001374625.1:c.1274A>C	NP_001361554.1:p.His425Pro
NM_002834.5:c.1277A>C MANE Select	NP_002825.3:p.His426Pro
NM_080601.3:c.1277A>C	NP_542168.1:p.His426Pro