Canonical Allele Identifier: CA10640303

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 307262
• ClinVar RCV Id: RCV000270955 ; RCV000326046 ; RCV000364452
• dbSNP Id: rs886048980
• gnomAD v3: 12-112509092-T-C
• gnomAD v4: 12-112509092-T-C
• MyVariant Identifiers: chr12:g.112946896T>C (hg19) ; chr12:g.112509092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112509092T>C , CM000674.2:g.112509092T>C	GRCh38
NC_000012.11:g.112946896T>C , CM000674.1:g.112946896T>C	GRCh37
NC_000012.10:g.111431279T>C	NCBI36
NG_007459.1:g.95361T>C , LRG_614:g.95361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685487.1:c.*4284T>C	ENSP00000508503.1:n.*4284T>C
ENST00000687120.1:n.6903T>C
ENST00000687906.1:c.*3300T>C	ENSP00000509536.1:n.*3300T>C
ENST00000688597.1:c.*3300T>C	ENSP00000510628.1:n.*3300T>C
ENST00000688701.1:n.4326T>C
ENST00000690210.1:c.*3300T>C	ENSP00000509272.1:n.*3300T>C
ENST00000690472.1:n.4291T>C
ENST00000692624.1:c.*3628T>C	ENSP00000508953.1:n.*3628T>C
ENST00000351677.7:c.*3300T>C MANE Select	ENSP00000340944.3:n.*3300T>C
ENST00000351677.6:c.*3300T>C	ENSP00000340944.2:n.*3300T>C
NM_002834.3:c.*3300T>C , LRG_614t1:c.*3300T>C	NP_002825.3:n.*3300T>C
XM_006719526.1:c.*3300T>C	XP_006719589.1:n.*3300T>C
XM_006719527.1:c.*3300T>C	XP_006719590.1:n.*3300T>C
XM_011538613.1:c.*3300T>C	XP_011536915.1:n.*3300T>C
NM_001330437.1:c.*3300T>C	NP_001317366.1:n.*3300T>C
NM_002834.4:c.*3300T>C	NP_002825.3:n.*3300T>C
XM_011538613.2:c.*3300T>C	XP_011536915.1:n.*3300T>C
XM_017019722.1:c.*3300T>C	XP_016875211.1:n.*3300T>C
NM_001330437.2:c.*3300T>C	NP_001317366.1:n.*3300T>C
NM_001374625.1:c.*3300T>C	NP_001361554.1:n.*3300T>C
NM_002834.5:c.*3300T>C MANE Select	NP_002825.3:n.*3300T>C