Canonical Allele Identifier: CA16042723
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 372482
ClinVar RCV Id: RCV000414617 RCV000491449 RCV000690306 RCV000785587 RCV003449035
dbSNP Id: rs1057517809
COSMIC: COSM5962
MyVariant Identifiers: chr10:g.89725043G>A (hg19) chr10:g.87965286G>A (hg38)
ERepo: CA16042723/MONDO:0017623/003
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965286G>A , CM000672.2:g.87965286G>A GRCh38
NC_000010.10:g.89725043G>A , CM000672.1:g.89725043G>A GRCh37
NC_000010.9:g.89715023G>A NCBI36
NG_007466.2:g.106848G>A , LRG_311:g.106848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1120-1G>A ENSP00000514759.2:n.1120-1G>A
ENST00000710265.1:c.*56-1G>A ENSP00000518161.1:n.*56-1G>A
ENST00000688158.2:n.1762-1G>A
ENST00000688922.2:c.*857-1G>A ENSP00000508742.2:n.*857-1G>A
ENST00000700021.1:c.982-1G>A ENSP00000514757.1:n.982-1G>A
ENST00000700022.1:c.*366-1G>A ENSP00000514758.1:n.*366-1G>A
ENST00000700023.1:n.2185-1G>A
ENST00000700024.1:n.2419-1G>A
ENST00000706954.1:c.1027-1G>A ENSP00000516674.1:n.1027-1G>A
ENST00000706955.1:c.*1062-1G>A ENSP00000516675.1:n.*1062-1G>A
ENST00000686459.1:c.*613-1G>A ENSP00000508909.1:n.*613-1G>A
ENST00000688158.1:c.*1138-1G>A ENSP00000509254.1:n.*1138-1G>A
ENST00000688308.1:c.1027-1G>A ENSP00000508752.1:n.1027-1G>A
ENST00000688922.1:c.948-1G>A
ENST00000693560.1:c.1546-1G>A ENSP00000509861.1:n.1546-1G>A
ENST00000371953.8:c.1027-1G>A MANE Select ENSP00000361021.3:n.1027-1G>A
ENST00000371953.7:c.1027-1G>A ENSP00000361021.3:n.1027-1G>A
NM_000314.5:c.1027-1G>A NP_000305.3:n.1027-1G>A
NM_000314.6:c.1027-1G>A NP_000305.3:n.1027-1G>A
NM_001304717.2:c.1546-1G>A NP_001291646.2:n.1546-1G>A
NM_001304718.1:c.436-1G>A NP_001291647.1:n.436-1G>A
XM_006717926.2:c.982-1G>A XP_006717989.1:n.982-1G>A
XM_011539982.1:c.931-1G>A XP_011538284.1:n.931-1G>A
XR_945791.1:n.1597-1G>A
NM_000314.7:c.1027-1G>A NP_000305.3:n.1027-1G>A
NM_001304717.5:c.1546-1G>A NP_001291646.4:n.1546-1G>A
NM_001304718.2:c.436-1G>A NP_001291647.1:n.436-1G>A
NM_000314.8:c.1027-1G>A MANE Select NP_000305.3:n.1027-1G>A
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