Canonical Allele Identifier: CA386779921

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 811634
• ClinVar RCV Id: RCV001001798 ; RCV001171895 ; RCV001261024 ; RCV003989616 ; RCV004528333
• dbSNP Id: rs397507550
• COSMIC: COSM1948766
• MyVariant Identifiers: chr12:g.112926910G>T (hg19) ; chr12:g.112489106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489106G>T , CM000674.2:g.112489106G>T	GRCh38
NC_000012.11:g.112926910G>T , CM000674.1:g.112926910G>T	GRCh37
NC_000012.10:g.111411293G>T	NCBI36
NG_007459.1:g.75375G>T , LRG_614:g.75375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1530G>T	ENSP00000491593.2:p.Gln510His
ENST00000685487.1:c.1530G>T	ENSP00000508503.1:p.Gln510His
ENST00000687624.1:n.195G>T
ENST00000687906.1:c.1416G>T	ENSP00000509536.1:p.Gln472His
ENST00000688597.1:c.1224+6901G>T	ENSP00000510628.1:n.1224+6901G>T
ENST00000688701.1:n.774G>T
ENST00000690210.1:c.1530G>T	ENSP00000509272.1:p.Gln510His
ENST00000690472.1:n.739G>T
ENST00000692624.1:c.*76G>T	ENSP00000508953.1:n.*76G>T
ENST00000351677.7:c.1530G>T MANE Select	ENSP00000340944.3:p.Gln510His
ENST00000351677.6:c.1530G>T	ENSP00000340944.2:p.Gln510His
ENST00000635625.1:c.1542G>T	ENSP00000489597.1:p.Gln514His
ENST00000635652.1:c.543G>T	ENSP00000489541.1:p.Gln181His
NM_002834.3:c.1530G>T , LRG_614t1:c.1530G>T	NP_002825.3:p.Gln510His
XM_006719526.1:c.1542G>T	XP_006719589.1:p.Gln514His
XM_006719527.1:c.1428G>T	XP_006719590.1:p.Gln476His
XM_011538613.1:c.1539G>T	XP_011536915.1:p.Gln513His
NM_001330437.1:c.1542G>T	NP_001317366.1:p.Gln514His
NM_002834.4:c.1530G>T	NP_002825.3:p.Gln510His
XM_011538613.2:c.1539G>T	XP_011536915.1:p.Gln513His
XM_017019722.1:c.1527G>T	XP_016875211.1:p.Gln509His
NM_001330437.2:c.1542G>T	NP_001317366.1:p.Gln514His
NM_001374625.1:c.1527G>T	NP_001361554.1:p.Gln509His
NM_002834.5:c.1530G>T MANE Select	NP_002825.3:p.Gln510His