Canonical Allele Identifier: CA377781947
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 480386
ClinVar RCV Id: RCV000563631 RCV001556501 RCV004555587 RCV004553261
dbSNP Id: rs786204910
MyVariant Identifiers: chr10:g.89624275C>G (hg19) chr10:g.87864518C>G (hg38)
ERepo: CA377781947/MONDO:0017623/003
PubMed: PMID:24979808 PMID:25669429 PMID:26216063
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87864518C>G , CM000672.2:g.87864518C>G GRCh38
NC_000010.10:g.89624275C>G , CM000672.1:g.89624275C>G GRCh37
NC_000010.9:g.89614255C>G NCBI36
NG_007466.2:g.6080C>G , LRG_311:g.6080C>G
NG_033079.1:g.3920G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.49C>G ENSP00000514759.2:p.Gln17Glu
ENST00000710265.1:c.49C>G ENSP00000518161.1:p.Gln17Glu
ENST00000472832.3:c.49C>G ENSP00000483066.2:p.Gln17Glu
ENST00000688922.2:c.49C>G ENSP00000508742.2:p.Gln17Glu
ENST00000700021.1:c.49C>G ENSP00000514757.1:p.Gln17Glu
ENST00000700022.1:c.49C>G ENSP00000514758.1:p.Gln17Glu
ENST00000706954.1:c.49C>G ENSP00000516674.1:p.Gln17Glu
ENST00000706955.1:c.49C>G ENSP00000516675.1:p.Gln17Glu
ENST00000686459.1:c.49C>G ENSP00000508909.1:p.Gln17Glu
ENST00000688158.1:c.49C>G ENSP00000509254.1:p.Gln17Glu
ENST00000688308.1:c.49C>G ENSP00000508752.1:p.Gln17Glu
ENST00000693560.1:c.568C>G ENSP00000509861.1:p.Gln190Glu
ENST00000371953.8:c.49C>G MANE Select ENSP00000361021.3:p.Gln17Glu
ENST00000371953.7:c.49C>G ENSP00000361021.3:p.Gln17Glu
ENST00000462694.1:n.51C>G
ENST00000487939.1:n.70C>G
ENST00000610634.1:c.-54C>G ENSP00000477517.1:n.-54C>G
ENST00000618586.1:n.18C>G
NM_000314.5:c.49C>G NP_000305.3:p.Gln17Glu
NM_000314.6:c.49C>G NP_000305.3:p.Gln17Glu
NM_001304717.2:c.568C>G NP_001291646.2:p.Gln190Glu
NM_001304718.1:c.-657C>G NP_001291647.1:n.-657C>G
XM_006717926.2:c.49C>G XP_006717989.1:p.Gln17Glu
XM_011539981.1:c.49C>G XP_011538283.1:p.Gln17Glu
XR_945789.1:n.761C>G
XR_945790.1:n.761C>G
XR_945791.1:n.761C>G
NM_000314.7:c.49C>G NP_000305.3:p.Gln17Glu
NM_001304717.5:c.568C>G NP_001291646.4:p.Gln190Glu
NM_001304718.2:c.-657C>G NP_001291647.1:n.-657C>G
NM_000314.8:c.49C>G MANE Select NP_000305.3:p.Gln17Glu
Search 100 bp 5'
Search 100 bp 3'