Canonical Allele Identifier: CA16042873
Gene: PTPN11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372552
ClinVar RCV Id: RCV000413347

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112477974C>T , CM000674.2:g.112477974C>T GRCh38
NC_000012.10:g.111400161C>T NCBI36
NC_000012.11:g.112915778C>T , CM000674.1:g.112915778C>T GRCh37
NG_007459.1:g.64243C>T , LRG_614:g.64243C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351677.6:c.1051C>T ENSP00000340944.2:p.Arg351Ter
ENST00000392597.5:c.1051C>T ENSP00000376376.1:p.Arg351Ter
ENST00000635625.1:n.1051C>T ENSP00000489597.1:p.Arg351Ter
ENST00000635652.1:n.43C>T ENSP00000489541.1:p.Arg15Ter
NM_002834.3:c.1051C>T , LRG_614t1:c.1051C>T NP_002825.3:p.Arg351Ter
NM_080601.1:c.1051C>T VV NP_542168.1:p.Arg351Ter
XM_006719526.1:c.1051C>T XP_006719589.1:p.Arg351Ter
XM_006719527.1:c.937C>T XP_006719590.1:p.Arg313Ter
XM_011538613.1:c.1048C>T XP_011536915.1:p.Arg350Ter
NM_001330437.1:c.1051C>T VV NP_001317366.1:p.Arg351Ter
NM_002834.4:c.1051C>T VV
NM_080601.2:c.1051C>T VV
XM_011538613.2:c.1048C>T
XM_017019722.1:c.1048C>T XP_016875211.1:p.Arg350Ter