Canonical Allele Identifier: CA261537

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40546
• ClinVar RCV Id: RCV000033529 ; RCV000037612 ; RCV001060541 ; RCV001729356
• dbSNP Id: rs121918468
• MyVariant Identifiers: chr12:g.112926248G>T (hg19) ; chr12:g.112488444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488444G>T , CM000674.2:g.112488444G>T	GRCh38
NC_000012.11:g.112926248G>T , CM000674.1:g.112926248G>T	GRCh37
NC_000012.10:g.111410631G>T	NCBI36
NG_007459.1:g.74713G>T , LRG_614:g.74713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1381G>T	ENSP00000491593.2:p.Ala461Ser
ENST00000685487.1:c.1381G>T	ENSP00000508503.1:p.Ala461Ser
ENST00000687624.1:n.46G>T
ENST00000687906.1:c.1267G>T	ENSP00000509536.1:p.Ala423Ser
ENST00000688597.1:c.1224+6239G>T	ENSP00000510628.1:n.1224+6239G>T
ENST00000688701.1:n.625G>T
ENST00000690210.1:c.1381G>T	ENSP00000509272.1:p.Ala461Ser
ENST00000690472.1:n.590G>T
ENST00000692624.1:c.1380-580G>T	ENSP00000508953.1:n.1380-580G>T
ENST00000351677.7:c.1381G>T MANE Select	ENSP00000340944.3:p.Ala461Ser
ENST00000351677.6:c.1381G>T	ENSP00000340944.2:p.Ala461Ser
ENST00000635625.1:c.1393G>T	ENSP00000489597.1:p.Ala465Ser
ENST00000635652.1:c.394G>T	ENSP00000489541.1:p.Ala132Ser
NM_002834.3:c.1381G>T , LRG_614t1:c.1381G>T	NP_002825.3:p.Ala461Ser
XM_006719526.1:c.1393G>T	XP_006719589.1:p.Ala465Ser
XM_006719527.1:c.1279G>T	XP_006719590.1:p.Ala427Ser
XM_011538613.1:c.1390G>T	XP_011536915.1:p.Ala464Ser
NM_001330437.1:c.1393G>T	NP_001317366.1:p.Ala465Ser
NM_002834.4:c.1381G>T	NP_002825.3:p.Ala461Ser
XM_011538613.2:c.1390G>T	XP_011536915.1:p.Ala464Ser
XM_017019722.1:c.1378G>T	XP_016875211.1:p.Ala460Ser
NM_001330437.2:c.1393G>T	NP_001317366.1:p.Ala465Ser
NM_001374625.1:c.1378G>T	NP_001361554.1:p.Ala460Ser
NM_002834.5:c.1381G>T MANE Select	NP_002825.3:p.Ala461Ser