Canonical Allele Identifier: CA386779886

Gene: PTPN11

Linked Data

• MyVariant Identifiers: chr12:g.112926898G>T (hg19) ; chr12:g.112489094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489094G>T , CM000674.2:g.112489094G>T	GRCh38
NC_000012.11:g.112926898G>T , CM000674.1:g.112926898G>T	GRCh37
NC_000012.10:g.111411281G>T	NCBI36
NG_007459.1:g.75363G>T , LRG_614:g.75363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1518G>T	ENSP00000491593.2:p.Gln506His
ENST00000685487.1:c.1518G>T	ENSP00000508503.1:p.Gln506His
ENST00000687624.1:n.183G>T
ENST00000687906.1:c.1404G>T	ENSP00000509536.1:p.Gln468His
ENST00000688597.1:c.1224+6889G>T	ENSP00000510628.1:n.1224+6889G>T
ENST00000688701.1:n.762G>T
ENST00000690210.1:c.1518G>T	ENSP00000509272.1:p.Gln506His
ENST00000690472.1:n.727G>T
ENST00000692624.1:c.*64G>T	ENSP00000508953.1:n.*64G>T
ENST00000351677.7:c.1518G>T MANE Select	ENSP00000340944.3:p.Gln506His
ENST00000351677.6:c.1518G>T	ENSP00000340944.2:p.Gln506His
ENST00000635625.1:c.1530G>T	ENSP00000489597.1:p.Gln510His
ENST00000635652.1:c.531G>T	ENSP00000489541.1:p.Gln177His
NM_002834.3:c.1518G>T , LRG_614t1:c.1518G>T	NP_002825.3:p.Gln506His
XM_006719526.1:c.1530G>T	XP_006719589.1:p.Gln510His
XM_006719527.1:c.1416G>T	XP_006719590.1:p.Gln472His
XM_011538613.1:c.1527G>T	XP_011536915.1:p.Gln509His
NM_001330437.1:c.1530G>T	NP_001317366.1:p.Gln510His
NM_002834.4:c.1518G>T	NP_002825.3:p.Gln506His
XM_011538613.2:c.1527G>T	XP_011536915.1:p.Gln509His
XM_017019722.1:c.1515G>T	XP_016875211.1:p.Gln505His
NM_001330437.2:c.1530G>T	NP_001317366.1:p.Gln510His
NM_001374625.1:c.1515G>T	NP_001361554.1:p.Gln505His
NM_002834.5:c.1518G>T MANE Select	NP_002825.3:p.Gln506His