Canonical Allele Identifier: CA377487468
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965455C>A , CM000672.2:g.87965455C>A GRCh38
NC_000010.10:g.89725212C>A , CM000672.1:g.89725212C>A GRCh37
NC_000010.9:g.89715192C>A NCBI36
NG_007466.2:g.107017C>A , LRG_311:g.107017C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1288C>A ENSP00000514759.2:p.Gln430Lys
ENST00000710265.1:c.*224C>A ENSP00000518161.1:n.*224C>A
ENST00000688158.2:n.1930C>A
ENST00000688922.2:c.*1025C>A ENSP00000508742.2:n.*1025C>A
ENST00000700021.1:c.1150C>A ENSP00000514757.1:p.Gln384Lys
ENST00000700022.1:c.*534C>A ENSP00000514758.1:n.*534C>A
ENST00000700023.1:n.2353C>A
ENST00000700024.1:n.2587C>A
ENST00000706954.1:c.1195C>A ENSP00000516674.1:p.Gln399Lys
ENST00000706955.1:c.*1230C>A ENSP00000516675.1:n.*1230C>A
ENST00000686459.1:c.*781C>A ENSP00000508909.1:n.*781C>A
ENST00000688158.1:c.*1306C>A ENSP00000509254.1:n.*1306C>A
ENST00000688308.1:c.1195C>A ENSP00000508752.1:p.Gln399Lys
ENST00000688922.1:c.1116C>A
ENST00000693560.1:c.1714C>A ENSP00000509861.1:p.Gln572Lys
ENST00000371953.8:c.1195C>A MANE Select ENSP00000361021.3:p.Gln399Lys
ENST00000371953.7:c.1195C>A ENSP00000361021.3:p.Gln399Lys
NM_000314.5:c.1195C>A NP_000305.3:p.Gln399Lys
NM_000314.6:c.1195C>A NP_000305.3:p.Gln399Lys
NM_001304717.2:c.1714C>A NP_001291646.2:p.Gln572Lys
NM_001304718.1:c.604C>A NP_001291647.1:p.Gln202Lys
XM_006717926.2:c.1150C>A XP_006717989.1:p.Gln384Lys
XM_011539982.1:c.1099C>A XP_011538284.1:p.Gln367Lys
XR_945791.1:n.1765C>A
NM_000314.7:c.1195C>A NP_000305.3:p.Gln399Lys
NM_001304717.5:c.1714C>A NP_001291646.4:p.Gln572Lys
NM_001304718.2:c.604C>A NP_001291647.1:p.Gln202Lys
NM_000314.8:c.1195C>A MANE Select NP_000305.3:p.Gln399Lys