Canonical Allele Identifier: CA386780110

Gene: PTPN11

Linked Data

• MyVariant Identifiers: chr12:g.112926957A>T (hg19) ; chr12:g.112489153A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489153A>T , CM000674.2:g.112489153A>T	GRCh38
NC_000012.11:g.112926957A>T , CM000674.1:g.112926957A>T	GRCh37
NC_000012.10:g.111411340A>T	NCBI36
NG_007459.1:g.75422A>T , LRG_614:g.75422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1577A>T	ENSP00000491593.2:p.Gln526Leu
ENST00000685487.1:c.1577A>T	ENSP00000508503.1:p.Gln526Leu
ENST00000687624.1:n.242A>T
ENST00000687906.1:c.1463A>T	ENSP00000509536.1:p.Gln488Leu
ENST00000688597.1:c.1224+6948A>T	ENSP00000510628.1:n.1224+6948A>T
ENST00000688701.1:n.821A>T
ENST00000690210.1:c.1577A>T	ENSP00000509272.1:p.Gln526Leu
ENST00000690472.1:n.786A>T
ENST00000692624.1:c.*123A>T	ENSP00000508953.1:n.*123A>T
ENST00000351677.7:c.1577A>T MANE Select	ENSP00000340944.3:p.Gln526Leu
ENST00000351677.6:c.1577A>T	ENSP00000340944.2:p.Gln526Leu
ENST00000635625.1:c.1589A>T	ENSP00000489597.1:p.Gln530Leu
NM_002834.3:c.1577A>T , LRG_614t1:c.1577A>T	NP_002825.3:p.Gln526Leu
XM_006719526.1:c.1589A>T	XP_006719589.1:p.Gln530Leu
XM_006719527.1:c.1475A>T	XP_006719590.1:p.Gln492Leu
XM_011538613.1:c.1586A>T	XP_011536915.1:p.Gln529Leu
NM_001330437.1:c.1589A>T	NP_001317366.1:p.Gln530Leu
NM_002834.4:c.1577A>T	NP_002825.3:p.Gln526Leu
XM_011538613.2:c.1586A>T	XP_011536915.1:p.Gln529Leu
XM_017019722.1:c.1574A>T	XP_016875211.1:p.Gln525Leu
NM_001330437.2:c.1589A>T	NP_001317366.1:p.Gln530Leu
NM_001374625.1:c.1574A>T	NP_001361554.1:p.Gln525Leu
NM_002834.5:c.1577A>T MANE Select	NP_002825.3:p.Gln526Leu