Canonical Allele Identifier: CA10603125
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 279878
dbSNP Id: rs121909232

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952258C>G , CM000672.2:g.87952258C>G GRCh38
NC_000010.10:g.89712015C>G , CM000672.1:g.89712015C>G GRCh37
NC_000010.9:g.89701995C>G NCBI36
NG_007466.2:g.93820C>G , LRG_311:g.93820C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.633C>G ENSP00000514759.2:p.Cys211Trp
ENST00000710265.1:c.633C>G ENSP00000518161.1:p.Cys211Trp
ENST00000472832.3:c.633C>G ENSP00000483066.2:p.Cys211Trp
ENST00000688158.2:n.1368C>G
ENST00000688922.2:c.*463C>G ENSP00000508742.2:n.*463C>G
ENST00000700021.1:c.588C>G ENSP00000514757.1:p.Cys196Trp
ENST00000700022.1:c.493-5595C>G ENSP00000514758.1:n.493-5595C>G
ENST00000700023.1:n.1791C>G
ENST00000700024.1:n.2025C>G
ENST00000700025.1:n.1402C>G
ENST00000700029.1:c.467C>G
ENST00000706954.1:c.633C>G ENSP00000516674.1:p.Cys211Trp
ENST00000706955.1:c.*668C>G ENSP00000516675.1:n.*668C>G
ENST00000686459.1:c.*219C>G ENSP00000508909.1:n.*219C>G
ENST00000688158.1:c.*744C>G ENSP00000509254.1:n.*744C>G
ENST00000688308.1:c.633C>G ENSP00000508752.1:p.Cys211Trp
ENST00000688922.1:c.554C>G
ENST00000693560.1:c.1152C>G ENSP00000509861.1:p.Cys384Trp
ENST00000371953.8:c.633C>G MANE Select ENSP00000361021.3:p.Cys211Trp
ENST00000371953.7:c.633C>G ENSP00000361021.3:p.Cys211Trp
ENST00000472832.2:c.60C>G ENSP00000483066.1:p.Cys20Trp
NM_000314.5:c.633C>G NP_000305.3:p.Cys211Trp
NM_000314.6:c.633C>G NP_000305.3:p.Cys211Trp
NM_001304717.2:c.1152C>G NP_001291646.2:p.Cys384Trp
NM_001304718.1:c.42C>G NP_001291647.1:p.Cys14Trp
XM_006717926.2:c.588C>G XP_006717989.1:p.Cys196Trp
XM_011539981.1:c.633C>G XP_011538283.1:p.Cys211Trp
XM_011539982.1:c.537C>G XP_011538284.1:p.Cys179Trp
XR_945791.1:n.1205-5595C>G
NM_000314.7:c.633C>G NP_000305.3:p.Cys211Trp
NM_001304717.5:c.1152C>G NP_001291646.4:p.Cys384Trp
NM_001304718.2:c.42C>G NP_001291647.1:p.Cys14Trp
NM_000314.8:c.633C>G MANE Select NP_000305.3:p.Cys211Trp