Canonical Allele Identifier: CA297097

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 181503
• ClinVar RCV Id: RCV000159056 ; RCV001002766 ; RCV002515083 ; RCV001261020 ; RCV001813411 ; RCV003764999
• dbSNP Id: rs397507539
• gnomAD v3: 12-112489047-C-G
• gnomAD v4: 12-112489047-C-G
• MyVariant Identifiers: chr12:g.112926851C>G (hg19) ; chr12:g.112489047C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489047C>G , CM000674.2:g.112489047C>G	GRCh38
NC_000012.11:g.112926851C>G , CM000674.1:g.112926851C>G	GRCh37
NC_000012.10:g.111411234C>G	NCBI36
NG_007459.1:g.75316C>G , LRG_614:g.75316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1471C>G	ENSP00000491593.2:p.Pro491Ala
ENST00000685487.1:c.1471C>G	ENSP00000508503.1:p.Pro491Ala
ENST00000687624.1:n.136C>G
ENST00000687906.1:c.1357C>G	ENSP00000509536.1:p.Pro453Ala
ENST00000688597.1:c.1224+6842C>G	ENSP00000510628.1:n.1224+6842C>G
ENST00000688701.1:n.715C>G
ENST00000690210.1:c.1471C>G	ENSP00000509272.1:p.Pro491Ala
ENST00000690472.1:n.680C>G
ENST00000692624.1:c.*17C>G	ENSP00000508953.1:n.*17C>G
ENST00000351677.7:c.1471C>G MANE Select	ENSP00000340944.3:p.Pro491Ala
ENST00000351677.6:c.1471C>G	ENSP00000340944.2:p.Pro491Ala
ENST00000635625.1:c.1483C>G	ENSP00000489597.1:p.Pro495Ala
ENST00000635652.1:c.484C>G	ENSP00000489541.1:p.Pro162Ala
NM_002834.3:c.1471C>G , LRG_614t1:c.1471C>G	NP_002825.3:p.Pro491Ala
XM_006719526.1:c.1483C>G	XP_006719589.1:p.Pro495Ala
XM_006719527.1:c.1369C>G	XP_006719590.1:p.Pro457Ala
XM_011538613.1:c.1480C>G	XP_011536915.1:p.Pro494Ala
NM_001330437.1:c.1483C>G	NP_001317366.1:p.Pro495Ala
NM_002834.4:c.1471C>G	NP_002825.3:p.Pro491Ala
XM_011538613.2:c.1480C>G	XP_011536915.1:p.Pro494Ala
XM_017019722.1:c.1468C>G	XP_016875211.1:p.Pro490Ala
NM_001330437.2:c.1483C>G	NP_001317366.1:p.Pro495Ala
NM_001374625.1:c.1468C>G	NP_001361554.1:p.Pro490Ala
NM_002834.5:c.1471C>G MANE Select	NP_002825.3:p.Pro491Ala