Canonical Allele Identifier: CA386779976

Gene: PTPN11

Linked Data

• dbSNP Id: rs2135916551
• MyVariant Identifiers: chr12:g.112926924A>T (hg19) ; chr12:g.112489120A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489120A>T , CM000674.2:g.112489120A>T	GRCh38
NC_000012.11:g.112926924A>T , CM000674.1:g.112926924A>T	GRCh37
NC_000012.10:g.111411307A>T	NCBI36
NG_007459.1:g.75389A>T , LRG_614:g.75389A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1544A>T	ENSP00000491593.2:p.Tyr515Phe
ENST00000685487.1:c.1544A>T	ENSP00000508503.1:p.Tyr515Phe
ENST00000687624.1:n.209A>T
ENST00000687906.1:c.1430A>T	ENSP00000509536.1:p.Tyr477Phe
ENST00000688597.1:c.1224+6915A>T	ENSP00000510628.1:n.1224+6915A>T
ENST00000688701.1:n.788A>T
ENST00000690210.1:c.1544A>T	ENSP00000509272.1:p.Tyr515Phe
ENST00000690472.1:n.753A>T
ENST00000692624.1:c.*90A>T	ENSP00000508953.1:n.*90A>T
ENST00000351677.7:c.1544A>T MANE Select	ENSP00000340944.3:p.Tyr515Phe
ENST00000351677.6:c.1544A>T	ENSP00000340944.2:p.Tyr515Phe
ENST00000635625.1:c.1556A>T	ENSP00000489597.1:p.Tyr519Phe
ENST00000635652.1:c.557A>T	ENSP00000489541.1:p.Tyr186Phe
NM_002834.3:c.1544A>T , LRG_614t1:c.1544A>T	NP_002825.3:p.Tyr515Phe
XM_006719526.1:c.1556A>T	XP_006719589.1:p.Tyr519Phe
XM_006719527.1:c.1442A>T	XP_006719590.1:p.Tyr481Phe
XM_011538613.1:c.1553A>T	XP_011536915.1:p.Tyr518Phe
NM_001330437.1:c.1556A>T	NP_001317366.1:p.Tyr519Phe
NM_002834.4:c.1544A>T	NP_002825.3:p.Tyr515Phe
XM_011538613.2:c.1553A>T	XP_011536915.1:p.Tyr518Phe
XM_017019722.1:c.1541A>T	XP_016875211.1:p.Tyr514Phe
NM_001330437.2:c.1556A>T	NP_001317366.1:p.Tyr519Phe
NM_001374625.1:c.1541A>T	NP_001361554.1:p.Tyr514Phe
NM_002834.5:c.1544A>T MANE Select	NP_002825.3:p.Tyr515Phe