Canonical Allele Identifier: CA10636809
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 301484
ClinVar RCV Id: RCV000350894
dbSNP Id: rs886047436

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87967672C>A , CM000672.2:g.87967672C>A GRCh38
NC_000010.10:g.89727429C>A , CM000672.1:g.89727429C>A GRCh37
NC_000010.9:g.89717409C>A NCBI36
NG_007466.2:g.109234C>A , LRG_311:g.109234C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710265.1:c.*2441C>A ENSP00000518161.1:n.*2441C>A
ENST00000688158.2:n.4147C>A
ENST00000706954.1:c.*2200C>A ENSP00000516674.1:n.*2200C>A
ENST00000706955.1:c.*3447C>A ENSP00000516675.1:n.*3447C>A
ENST00000688158.1:c.*3523C>A ENSP00000509254.1:n.*3523C>A
ENST00000693560.1:c.*2200C>A ENSP00000509861.1:n.*2200C>A
ENST00000371953.8:c.*2200C>A MANE Select ENSP00000361021.3:n.*2200C>A
ENST00000371953.7:c.*2200C>A ENSP00000361021.3:n.*2200C>A
NM_000314.5:c.*2200C>A NP_000305.3:n.*2200C>A
NM_000314.6:c.*2200C>A NP_000305.3:n.*2200C>A
NM_001304717.2:c.*2200C>A NP_001291646.2:n.*2200C>A
NM_001304718.1:c.*2200C>A NP_001291647.1:n.*2200C>A
XM_006717926.2:c.*2200C>A XP_006717989.1:n.*2200C>A
XM_011539982.1:c.*2200C>A XP_011538284.1:n.*2200C>A
XR_945791.1:n.3982C>A
NM_000314.7:c.*2200C>A NP_000305.3:n.*2200C>A
NM_001304717.5:c.*2200C>A NP_001291646.4:n.*2200C>A
NM_001304718.2:c.*2200C>A NP_001291647.1:n.*2200C>A
NM_000314.8:c.*2200C>A MANE Select NP_000305.3:n.*2200C>A