Canonical Allele Identifier: CA243723176

Gene: PTPN11

Linked Data

• dbSNP Id: rs564807667
• gnomAD v3: 12-112502024-G-T
• gnomAD v4: 12-112502024-G-T
• MyVariant Identifiers: chr12:g.112939828G>T (hg19) ; chr12:g.112502024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112502024G>T , CM000674.2:g.112502024G>T	GRCh38
NC_000012.11:g.112939828G>T , CM000674.1:g.112939828G>T	GRCh37
NC_000012.10:g.111424211G>T	NCBI36
NG_007459.1:g.88293G>T , LRG_614:g.88293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1600-120G>T	ENSP00000491593.2:n.1600-120G>T
ENST00000685487.1:c.*802-120G>T	ENSP00000508503.1:n.*802-120G>T
ENST00000687120.1:n.863G>T
ENST00000687906.1:c.1486-120G>T	ENSP00000509536.1:n.1486-120G>T
ENST00000688597.1:c.1225-120G>T	ENSP00000510628.1:n.1225-120G>T
ENST00000688701.1:n.844-120G>T
ENST00000690210.1:c.1600-120G>T	ENSP00000509272.1:n.1600-120G>T
ENST00000690472.1:n.809-120G>T
ENST00000692624.1:c.*146-120G>T	ENSP00000508953.1:n.*146-120G>T
ENST00000351677.7:c.1600-120G>T MANE Select	ENSP00000340944.3:n.1600-120G>T
ENST00000351677.6:c.1600-120G>T	ENSP00000340944.2:n.1600-120G>T
ENST00000635625.1:c.1612-120G>T	ENSP00000489597.1:n.1612-120G>T
NM_002834.3:c.1600-120G>T , LRG_614t1:c.1600-120G>T	NP_002825.3:n.1600-120G>T
XM_006719526.1:c.1612-120G>T	XP_006719589.1:n.1612-120G>T
XM_006719527.1:c.1498-120G>T	XP_006719590.1:n.1498-120G>T
XM_011538613.1:c.1609-120G>T	XP_011536915.1:n.1609-120G>T
NM_001330437.1:c.1612-120G>T	NP_001317366.1:n.1612-120G>T
NM_002834.4:c.1600-120G>T	NP_002825.3:n.1600-120G>T
XM_011538613.2:c.1609-120G>T	XP_011536915.1:n.1609-120G>T
XM_017019722.1:c.1597-120G>T	XP_016875211.1:n.1597-120G>T
NM_001330437.2:c.1612-120G>T	NP_001317366.1:n.1612-120G>T
NM_001374625.1:c.1597-120G>T	NP_001361554.1:n.1597-120G>T
NM_002834.5:c.1600-120G>T MANE Select	NP_002825.3:n.1600-120G>T