Canonical Allele Identifier: CA256749
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 13324
dbSNP Id: rs121918453

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450394G>T , CM000674.2:g.112450394G>T GRCh38
NC_000012.11:g.112888198G>T , CM000674.1:g.112888198G>T GRCh37
NC_000012.10:g.111372581G>T NCBI36
NG_007459.1:g.36663G>T , LRG_614:g.36663G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.214G>T ENSP00000491593.2:p.Ala72Ser
ENST00000685487.1:c.214G>T ENSP00000508503.1:p.Ala72Ser
ENST00000687906.1:c.214G>T ENSP00000509536.1:p.Ala72Ser
ENST00000688597.1:c.214G>T ENSP00000510628.1:p.Ala72Ser
ENST00000690210.1:c.214G>T ENSP00000509272.1:p.Ala72Ser
ENST00000692624.1:c.214G>T ENSP00000508953.1:p.Ala72Ser
ENST00000351677.7:c.214G>T MANE Select ENSP00000340944.3:p.Ala72Ser
ENST00000639857.1:c.214G>T ENSP00000491593.1:p.Ala72Ser
ENST00000351677.6:c.214G>T ENSP00000340944.2:p.Ala72Ser
ENST00000392597.5:c.214G>T ENSP00000376376.1:p.Ala72Ser
ENST00000635625.1:c.214G>T ENSP00000489597.1:p.Ala72Ser
NM_002834.3:c.214G>T , LRG_614t1:c.214G>T NP_002825.3:p.Ala72Ser
NM_080601.1:c.214G>T NP_542168.1:p.Ala72Ser
XM_006719526.1:c.214G>T XP_006719589.1:p.Ala72Ser
XM_006719527.1:c.214G>T XP_006719590.1:p.Ala72Ser
XM_011538613.1:c.211G>T XP_011536915.1:p.Ala71Ser
NM_001330437.1:c.214G>T NP_001317366.1:p.Ala72Ser
NM_002834.4:c.214G>T NP_002825.3:p.Ala72Ser
NM_080601.2:c.214G>T NP_542168.1:p.Ala72Ser
XM_011538613.2:c.211G>T XP_011536915.1:p.Ala71Ser
XM_017019722.1:c.211G>T XP_016875211.1:p.Ala71Ser
NM_001330437.2:c.214G>T NP_001317366.1:p.Ala72Ser
NM_001374625.1:c.211G>T NP_001361554.1:p.Ala71Ser
NM_002834.5:c.214G>T MANE Select NP_002825.3:p.Ala72Ser
NM_080601.3:c.214G>T NP_542168.1:p.Ala72Ser