Canonical Allele Identifier: CA6798801

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 2038598
• ClinVar RCV Id: RCV002907661
• dbSNP Id: rs751834261
• ExAC: 12:112926838 C / T
• gnomAD v2: 12-112926838-C-T
• gnomAD v4: 12-112489034-C-T
• COSMIC: COSM6452510
• MyVariant Identifiers: chr12:g.112926838C>T (hg19) ; chr12:g.112489034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489034C>T , CM000674.2:g.112489034C>T	GRCh38
NC_000012.11:g.112926838C>T , CM000674.1:g.112926838C>T	GRCh37
NC_000012.10:g.111411221C>T	NCBI36
NG_007459.1:g.75303C>T , LRG_614:g.75303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1458C>T	ENSP00000491593.2:p.Cys486=
ENST00000685487.1:c.1458C>T	ENSP00000508503.1:p.Cys486=
ENST00000687624.1:n.123C>T
ENST00000687906.1:c.1344C>T	ENSP00000509536.1:p.Cys448=
ENST00000688597.1:c.1224+6829C>T	ENSP00000510628.1:n.1224+6829C>T
ENST00000688701.1:n.702C>T
ENST00000690210.1:c.1458C>T	ENSP00000509272.1:p.Cys486=
ENST00000690472.1:n.667C>T
ENST00000692624.1:c.*4C>T	ENSP00000508953.1:n.*4C>T
ENST00000351677.7:c.1458C>T MANE Select	ENSP00000340944.3:p.Cys486=
ENST00000351677.6:c.1458C>T	ENSP00000340944.2:p.Cys486=
ENST00000635625.1:c.1470C>T	ENSP00000489597.1:p.Cys490=
ENST00000635652.1:c.471C>T	ENSP00000489541.1:p.Cys157=
NM_002834.3:c.1458C>T , LRG_614t1:c.1458C>T	NP_002825.3:p.Cys486=
XM_006719526.1:c.1470C>T	XP_006719589.1:p.Cys490=
XM_006719527.1:c.1356C>T	XP_006719590.1:p.Cys452=
XM_011538613.1:c.1467C>T	XP_011536915.1:p.Cys489=
NM_001330437.1:c.1470C>T	NP_001317366.1:p.Cys490=
NM_002834.4:c.1458C>T	NP_002825.3:p.Cys486=
XM_011538613.2:c.1467C>T	XP_011536915.1:p.Cys489=
XM_017019722.1:c.1455C>T	XP_016875211.1:p.Cys485=
NM_001330437.2:c.1470C>T	NP_001317366.1:p.Cys490=
NM_001374625.1:c.1455C>T	NP_001361554.1:p.Cys485=
NM_002834.5:c.1458C>T MANE Select	NP_002825.3:p.Cys486=