Canonical Allele Identifier: CA386778105

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 1440650
• ClinVar RCV Id: RCV001950464
• dbSNP Id: rs397509344
• MyVariant Identifiers: chr12:g.112926249C>T (hg19) ; chr12:g.112488445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488445C>T , CM000674.2:g.112488445C>T	GRCh38
NC_000012.11:g.112926249C>T , CM000674.1:g.112926249C>T	GRCh37
NC_000012.10:g.111410632C>T	NCBI36
NG_007459.1:g.74714C>T , LRG_614:g.74714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1382C>T	ENSP00000491593.2:p.Ala461Val
ENST00000685487.1:c.1382C>T	ENSP00000508503.1:p.Ala461Val
ENST00000687624.1:n.47C>T
ENST00000687906.1:c.1268C>T	ENSP00000509536.1:p.Ala423Val
ENST00000688597.1:c.1224+6240C>T	ENSP00000510628.1:n.1224+6240C>T
ENST00000688701.1:n.626C>T
ENST00000690210.1:c.1382C>T	ENSP00000509272.1:p.Ala461Val
ENST00000690472.1:n.591C>T
ENST00000692624.1:c.1380-579C>T	ENSP00000508953.1:n.1380-579C>T
ENST00000351677.7:c.1382C>T MANE Select	ENSP00000340944.3:p.Ala461Val
ENST00000351677.6:c.1382C>T	ENSP00000340944.2:p.Ala461Val
ENST00000635625.1:c.1394C>T	ENSP00000489597.1:p.Ala465Val
ENST00000635652.1:c.395C>T	ENSP00000489541.1:p.Ala132Val
NM_002834.3:c.1382C>T , LRG_614t1:c.1382C>T	NP_002825.3:p.Ala461Val
XM_006719526.1:c.1394C>T	XP_006719589.1:p.Ala465Val
XM_006719527.1:c.1280C>T	XP_006719590.1:p.Ala427Val
XM_011538613.1:c.1391C>T	XP_011536915.1:p.Ala464Val
NM_001330437.1:c.1394C>T	NP_001317366.1:p.Ala465Val
NM_002834.4:c.1382C>T	NP_002825.3:p.Ala461Val
XM_011538613.2:c.1391C>T	XP_011536915.1:p.Ala464Val
XM_017019722.1:c.1379C>T	XP_016875211.1:p.Ala460Val
NM_001330437.2:c.1394C>T	NP_001317366.1:p.Ala465Val
NM_001374625.1:c.1379C>T	NP_001361554.1:p.Ala460Val
NM_002834.5:c.1382C>T MANE Select	NP_002825.3:p.Ala461Val