Canonical Allele Identifier: CA951925353

Gene: PTPN11

Linked Data

• dbSNP Id: rs2038947184
• gnomAD v3: 12-112507293-C-G
• gnomAD v4: 12-112507293-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507293C>G , CM000674.2:g.112507293C>G	GRCh38
NC_000012.11:g.112945097C>G , CM000674.1:g.112945097C>G	GRCh37
NC_000012.10:g.111429480C>G	NCBI36
NG_007459.1:g.93562C>G , LRG_614:g.93562C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*1444C>G	ENSP00000491593.2:n.*1444C>G
ENST00000685487.1:c.*2485C>G	ENSP00000508503.1:n.*2485C>G
ENST00000687120.1:n.5104C>G
ENST00000687906.1:c.*1501C>G	ENSP00000509536.1:n.*1501C>G
ENST00000688597.1:c.*1501C>G	ENSP00000510628.1:n.*1501C>G
ENST00000688701.1:n.2527C>G
ENST00000690210.1:c.*1501C>G	ENSP00000509272.1:n.*1501C>G
ENST00000690472.1:n.2492C>G
ENST00000692624.1:c.*1829C>G	ENSP00000508953.1:n.*1829C>G
ENST00000351677.7:c.*1501C>G MANE Select	ENSP00000340944.3:n.*1501C>G
ENST00000351677.6:c.*1501C>G	ENSP00000340944.2:n.*1501C>G
NM_002834.3:c.*1501C>G , LRG_614t1:c.*1501C>G	NP_002825.3:n.*1501C>G
XM_006719526.1:c.*1501C>G	XP_006719589.1:n.*1501C>G
XM_006719527.1:c.*1501C>G	XP_006719590.1:n.*1501C>G
XM_011538613.1:c.*1501C>G	XP_011536915.1:n.*1501C>G
NM_001330437.1:c.*1501C>G	NP_001317366.1:n.*1501C>G
NM_002834.4:c.*1501C>G	NP_002825.3:n.*1501C>G
XM_011538613.2:c.*1501C>G	XP_011536915.1:n.*1501C>G
XM_017019722.1:c.*1501C>G	XP_016875211.1:n.*1501C>G
NM_001330437.2:c.*1501C>G	NP_001317366.1:n.*1501C>G
NM_001374625.1:c.*1501C>G	NP_001361554.1:n.*1501C>G
NM_002834.5:c.*1501C>G MANE Select	NP_002825.3:n.*1501C>G