Canonical Allele Identifier: CA386777180

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112486521C>T , CM000674.2:g.112486521C>T	GRCh38
NC_000012.11:g.112924325C>T , CM000674.1:g.112924325C>T	GRCh37
NC_000012.10:g.111408708C>T	NCBI36
NG_007459.1:g.72790C>T , LRG_614:g.72790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1271C>T	ENSP00000491593.2:p.Pro424Leu
ENST00000685487.1:c.1271C>T	ENSP00000508503.1:p.Pro424Leu
ENST00000687906.1:c.1157C>T	ENSP00000509536.1:p.Pro386Leu
ENST00000688597.1:c.1224+4316C>T	ENSP00000510628.1:n.1224+4316C>T
ENST00000690210.1:c.1271C>T	ENSP00000509272.1:p.Pro424Leu
ENST00000690472.1:n.480C>T
ENST00000692624.1:c.1271C>T	ENSP00000508953.1:p.Pro424Leu
ENST00000351677.7:c.1271C>T MANE Select	ENSP00000340944.3:p.Pro424Leu
ENST00000351677.6:c.1271C>T	ENSP00000340944.2:p.Pro424Leu
ENST00000392597.5:c.1271C>T	ENSP00000376376.1:p.Pro424Leu
ENST00000635625.1:c.1283C>T	ENSP00000489597.1:p.Pro428Leu
ENST00000635652.1:c.284C>T	ENSP00000489541.1:p.Pro95Leu
NM_002834.3:c.1271C>T , LRG_614t1:c.1271C>T	NP_002825.3:p.Pro424Leu
NM_080601.1:c.1271C>T	NP_542168.1:p.Pro424Leu
XM_006719526.1:c.1283C>T	XP_006719589.1:p.Pro428Leu
XM_006719527.1:c.1169C>T	XP_006719590.1:p.Pro390Leu
XM_011538613.1:c.1280C>T	XP_011536915.1:p.Pro427Leu
NM_001330437.1:c.1283C>T	NP_001317366.1:p.Pro428Leu
NM_002834.4:c.1271C>T	NP_002825.3:p.Pro424Leu
NM_080601.2:c.1271C>T	NP_542168.1:p.Pro424Leu
XM_011538613.2:c.1280C>T	XP_011536915.1:p.Pro427Leu
XM_017019722.1:c.1268C>T	XP_016875211.1:p.Pro423Leu
NM_001330437.2:c.1283C>T	NP_001317366.1:p.Pro428Leu
NM_001374625.1:c.1268C>T	NP_001361554.1:p.Pro423Leu
NM_002834.5:c.1271C>T MANE Select	NP_002825.3:p.Pro424Leu
NM_080601.3:c.1271C>T	NP_542168.1:p.Pro424Leu