Canonical Allele Identifier: CA377482059
Community Standard Title: NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933023T>G , CM000672.2:g.87933023T>G GRCh38
NC_000010.10:g.89692780T>G , CM000672.1:g.89692780T>G GRCh37
NC_000010.9:g.89682760T>G NCBI36
NG_007466.2:g.74585T>G , LRG_311:g.74585T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.264T>G MANE Select NP_000305.3:p.Tyr88Ter
ENST00000371953.8:c.264T>G MANE Select ENSP00000361021.3:p.Tyr88Ter
NM_000314.5:c.264T>G NP_000305.3:p.Tyr88Ter
NM_000314.6:c.264T>G NP_000305.3:p.Tyr88Ter
NM_000314.7:c.264T>G NP_000305.3:p.Tyr88Ter
NM_001304717.2:c.783T>G NP_001291646.2:p.Tyr261Ter
NM_001304717.5:c.783T>G NP_001291646.4:p.Tyr261Ter
NM_001304718.1:c.-487T>G NP_001291647.1:n.-487T>G
NM_001304718.2:c.-487T>G NP_001291647.1:n.-487T>G
ENST00000371953.7:c.264T>G ENSP00000361021.3:p.Tyr88Ter
ENST00000472832.3:c.264T>G ENSP00000483066.2:p.Tyr88Ter
ENST00000498703.1:n.90T>G
ENST00000610634.1:c.162T>G ENSP00000477517.1:p.Tyr54Ter
ENST00000686459.1:c.264T>G ENSP00000508909.1:p.Tyr88Ter
ENST00000688158.1:c.*375T>G ENSP00000509254.1:n.*375T>G
ENST00000688158.2:n.999T>G
ENST00000688308.1:c.264T>G ENSP00000508752.1:p.Tyr88Ter
ENST00000688922.1:c.185T>G
ENST00000688922.2:c.*94T>G ENSP00000508742.2:n.*94T>G
ENST00000693560.1:c.783T>G ENSP00000509861.1:p.Tyr261Ter
ENST00000700021.1:c.219T>G ENSP00000514757.1:p.Tyr73Ter
ENST00000700022.1:c.264T>G ENSP00000514758.1:p.Tyr88Ter
ENST00000700029.1:c.98T>G
ENST00000700029.2:c.264T>G ENSP00000514759.2:p.Tyr88Ter
ENST00000706954.1:c.264T>G ENSP00000516674.1:p.Tyr88Ter
ENST00000706955.1:c.*299T>G ENSP00000516675.1:n.*299T>G
ENST00000710265.1:c.264T>G ENSP00000518161.1:p.Tyr88Ter
XM_006717926.2:c.219T>G XP_006717989.1:p.Tyr73Ter
XM_011539981.1:c.264T>G XP_011538283.1:p.Tyr88Ter
XM_011539982.1:c.168T>G XP_011538284.1:p.Tyr56Ter
XR_945789.1:n.976T>G
XR_945790.1:n.976T>G
XR_945791.1:n.976T>G