Canonical Allele Identifier: CA386779994

Gene: PTPN11

Linked Data

• dbSNP Id: rs2135916583
• MyVariant Identifiers: chr12:g.112926929G>T (hg19) ; chr12:g.112489125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489125G>T , CM000674.2:g.112489125G>T	GRCh38
NC_000012.11:g.112926929G>T , CM000674.1:g.112926929G>T	GRCh37
NC_000012.10:g.111411312G>T	NCBI36
NG_007459.1:g.75394G>T , LRG_614:g.75394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1549G>T	ENSP00000491593.2:p.Ala517Ser
ENST00000685487.1:c.1549G>T	ENSP00000508503.1:p.Ala517Ser
ENST00000687624.1:n.214G>T
ENST00000687906.1:c.1435G>T	ENSP00000509536.1:p.Ala479Ser
ENST00000688597.1:c.1224+6920G>T	ENSP00000510628.1:n.1224+6920G>T
ENST00000688701.1:n.793G>T
ENST00000690210.1:c.1549G>T	ENSP00000509272.1:p.Ala517Ser
ENST00000690472.1:n.758G>T
ENST00000692624.1:c.*95G>T	ENSP00000508953.1:n.*95G>T
ENST00000351677.7:c.1549G>T MANE Select	ENSP00000340944.3:p.Ala517Ser
ENST00000351677.6:c.1549G>T	ENSP00000340944.2:p.Ala517Ser
ENST00000635625.1:c.1561G>T	ENSP00000489597.1:p.Ala521Ser
ENST00000635652.1:c.562G>T	ENSP00000489541.1:p.Ala188Ser
NM_002834.3:c.1549G>T , LRG_614t1:c.1549G>T	NP_002825.3:p.Ala517Ser
XM_006719526.1:c.1561G>T	XP_006719589.1:p.Ala521Ser
XM_006719527.1:c.1447G>T	XP_006719590.1:p.Ala483Ser
XM_011538613.1:c.1558G>T	XP_011536915.1:p.Ala520Ser
NM_001330437.1:c.1561G>T	NP_001317366.1:p.Ala521Ser
NM_002834.4:c.1549G>T	NP_002825.3:p.Ala517Ser
XM_011538613.2:c.1558G>T	XP_011536915.1:p.Ala520Ser
XM_017019722.1:c.1546G>T	XP_016875211.1:p.Ala516Ser
NM_001330437.2:c.1561G>T	NP_001317366.1:p.Ala521Ser
NM_001374625.1:c.1546G>T	NP_001361554.1:p.Ala516Ser
NM_002834.5:c.1549G>T MANE Select	NP_002825.3:p.Ala517Ser