Canonical Allele Identifier: CA2063755145

Gene: PTPN11

Linked Data

• dbSNP Id: rs530858550
• gnomAD v4: 12-112502003-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112502003A>T , CM000674.2:g.112502003A>T	GRCh38
NC_000012.11:g.112939807A>T , CM000674.1:g.112939807A>T	GRCh37
NC_000012.10:g.111424190A>T	NCBI36
NG_007459.1:g.88272A>T , LRG_614:g.88272A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1600-141A>T	ENSP00000491593.2:n.1600-141A>T
ENST00000685487.1:c.*802-141A>T	ENSP00000508503.1:n.*802-141A>T
ENST00000687120.1:n.842A>T
ENST00000687906.1:c.1486-141A>T	ENSP00000509536.1:n.1486-141A>T
ENST00000688597.1:c.1225-141A>T	ENSP00000510628.1:n.1225-141A>T
ENST00000688701.1:n.844-141A>T
ENST00000690210.1:c.1600-141A>T	ENSP00000509272.1:n.1600-141A>T
ENST00000690472.1:n.809-141A>T
ENST00000692624.1:c.*146-141A>T	ENSP00000508953.1:n.*146-141A>T
ENST00000351677.7:c.1600-141A>T MANE Select	ENSP00000340944.3:n.1600-141A>T
ENST00000351677.6:c.1600-141A>T	ENSP00000340944.2:n.1600-141A>T
ENST00000635625.1:c.1612-141A>T	ENSP00000489597.1:n.1612-141A>T
NM_002834.3:c.1600-141A>T , LRG_614t1:c.1600-141A>T	NP_002825.3:n.1600-141A>T
XM_006719526.1:c.1612-141A>T	XP_006719589.1:n.1612-141A>T
XM_006719527.1:c.1498-141A>T	XP_006719590.1:n.1498-141A>T
XM_011538613.1:c.1609-141A>T	XP_011536915.1:n.1609-141A>T
NM_001330437.1:c.1612-141A>T	NP_001317366.1:n.1612-141A>T
NM_002834.4:c.1600-141A>T	NP_002825.3:n.1600-141A>T
XM_011538613.2:c.1609-141A>T	XP_011536915.1:n.1609-141A>T
XM_017019722.1:c.1597-141A>T	XP_016875211.1:n.1597-141A>T
NM_001330437.2:c.1612-141A>T	NP_001317366.1:n.1612-141A>T
NM_001374625.1:c.1597-141A>T	NP_001361554.1:n.1597-141A>T
NM_002834.5:c.1600-141A>T MANE Select	NP_002825.3:n.1600-141A>T