Canonical Allele Identifier: CA386777904
Gene: PTPN11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.112888214T>A (hg19) chr12:g.112450410T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450410T>A , CM000674.2:g.112450410T>A GRCh38
NC_000012.11:g.112888214T>A , CM000674.1:g.112888214T>A GRCh37
NC_000012.10:g.111372597T>A NCBI36
NG_007459.1:g.36679T>A , LRG_614:g.36679T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.230T>A ENSP00000491593.2:p.Leu77Ter
ENST00000685487.1:c.230T>A ENSP00000508503.1:p.Leu77Ter
ENST00000687906.1:c.230T>A ENSP00000509536.1:p.Leu77Ter
ENST00000688597.1:c.230T>A ENSP00000510628.1:p.Leu77Ter
ENST00000690210.1:c.230T>A ENSP00000509272.1:p.Leu77Ter
ENST00000692624.1:c.230T>A ENSP00000508953.1:p.Leu77Ter
ENST00000351677.7:c.230T>A MANE Select ENSP00000340944.3:p.Leu77Ter
ENST00000639857.1:c.230T>A ENSP00000491593.1:p.Leu77Ter
ENST00000351677.6:c.230T>A ENSP00000340944.2:p.Leu77Ter
ENST00000392597.5:c.230T>A ENSP00000376376.1:p.Leu77Ter
ENST00000635625.1:c.230T>A ENSP00000489597.1:p.Leu77Ter
NM_002834.3:c.230T>A , LRG_614t1:c.230T>A NP_002825.3:p.Leu77Ter
NM_080601.1:c.230T>A NP_542168.1:p.Leu77Ter
XM_006719526.1:c.230T>A XP_006719589.1:p.Leu77Ter
XM_006719527.1:c.230T>A XP_006719590.1:p.Leu77Ter
XM_011538613.1:c.227T>A XP_011536915.1:p.Leu76Ter
NM_001330437.1:c.230T>A NP_001317366.1:p.Leu77Ter
NM_002834.4:c.230T>A NP_002825.3:p.Leu77Ter
NM_080601.2:c.230T>A NP_542168.1:p.Leu77Ter
XM_011538613.2:c.227T>A XP_011536915.1:p.Leu76Ter
XM_017019722.1:c.227T>A XP_016875211.1:p.Leu76Ter
NM_001330437.2:c.230T>A NP_001317366.1:p.Leu77Ter
NM_001374625.1:c.227T>A NP_001361554.1:p.Leu76Ter
NM_002834.5:c.230T>A MANE Select NP_002825.3:p.Leu77Ter
NM_080601.3:c.230T>A NP_542168.1:p.Leu77Ter
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