Canonical Allele Identifier: CA6798781

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488438C>T , CM000674.2:g.112488438C>T	GRCh38
NC_000012.11:g.112926242C>T , CM000674.1:g.112926242C>T	GRCh37
NC_000012.10:g.111410625C>T	NCBI36
NG_007459.1:g.74707C>T , LRG_614:g.74707C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002834.5:c.1380-5C>T MANE Select	NP_002825.3:n.1380-5C>T
ENST00000351677.7:c.1380-5C>T MANE Select	ENSP00000340944.3:n.1380-5C>T
NM_001330437.1:c.1392-5C>T	NP_001317366.1:n.1392-5C>T
NM_001330437.2:c.1392-5C>T	NP_001317366.1:n.1392-5C>T
NM_001374625.1:c.1377-5C>T	NP_001361554.1:n.1377-5C>T
NM_002834.3:c.1380-5C>T , LRG_614t1:c.1380-5C>T	NP_002825.3:n.1380-5C>T
NM_002834.4:c.1380-5C>T	NP_002825.3:n.1380-5C>T
ENST00000351677.6:c.1380-5C>T	ENSP00000340944.2:n.1380-5C>T
ENST00000635625.1:c.1392-5C>T	ENSP00000489597.1:n.1392-5C>T
ENST00000635652.1:c.393-5C>T	ENSP00000489541.1:n.393-5C>T
ENST00000639857.2:c.1380-5C>T	ENSP00000491593.2:n.1380-5C>T
ENST00000685487.1:c.1380-5C>T	ENSP00000508503.1:n.1380-5C>T
ENST00000687624.1:n.40C>T
ENST00000687906.1:c.1266-5C>T	ENSP00000509536.1:n.1266-5C>T
ENST00000688597.1:c.1224+6233C>T	ENSP00000510628.1:n.1224+6233C>T
ENST00000688701.1:n.619C>T
ENST00000690210.1:c.1380-5C>T	ENSP00000509272.1:n.1380-5C>T
ENST00000690472.1:n.589-5C>T
ENST00000692624.1:c.1380-586C>T	ENSP00000508953.1:n.1380-586C>T
XM_006719526.1:c.1392-5C>T	XP_006719589.1:n.1392-5C>T
XM_006719527.1:c.1278-5C>T	XP_006719590.1:n.1278-5C>T
XM_011538613.1:c.1389-5C>T	XP_011536915.1:n.1389-5C>T
XM_011538613.2:c.1389-5C>T	XP_011536915.1:n.1389-5C>T
XM_017019722.1:c.1377-5C>T	XP_016875211.1:n.1377-5C>T