Canonical Allele Identifier: CA377485461
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1860616865

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960906C>G , CM000672.2:g.87960906C>G GRCh38
NC_000010.10:g.89720663C>G , CM000672.1:g.89720663C>G GRCh37
NC_000010.9:g.89710643C>G NCBI36
NG_007466.2:g.102468C>G , LRG_311:g.102468C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.907C>G ENSP00000514759.2:p.His303Asp
ENST00000710265.1:c.814C>G ENSP00000518161.1:p.His272Asp
ENST00000472832.3:c.814C>G ENSP00000483066.2:p.His272Asp
ENST00000688158.2:n.1549C>G
ENST00000688922.2:c.*644C>G ENSP00000508742.2:n.*644C>G
ENST00000700021.1:c.769C>G ENSP00000514757.1:p.His257Asp
ENST00000700022.1:c.*153C>G ENSP00000514758.1:n.*153C>G
ENST00000700023.1:n.1972C>G
ENST00000700024.1:n.2206C>G
ENST00000700025.1:n.1583C>G
ENST00000700026.1:n.451C>G
ENST00000700029.1:c.741C>G
ENST00000706954.1:c.814C>G ENSP00000516674.1:p.His272Asp
ENST00000706955.1:c.*849C>G ENSP00000516675.1:n.*849C>G
ENST00000686459.1:c.*400C>G ENSP00000508909.1:n.*400C>G
ENST00000688158.1:c.*925C>G ENSP00000509254.1:n.*925C>G
ENST00000688308.1:c.814C>G ENSP00000508752.1:p.His272Asp
ENST00000688922.1:c.735C>G
ENST00000693560.1:c.1333C>G ENSP00000509861.1:p.His445Asp
ENST00000371953.8:c.814C>G MANE Select ENSP00000361021.3:p.His272Asp
ENST00000371953.7:c.814C>G ENSP00000361021.3:p.His272Asp
ENST00000472832.2:c.241C>G ENSP00000483066.1:p.His81Asp
NM_000314.5:c.814C>G NP_000305.3:p.His272Asp
NM_000314.6:c.814C>G NP_000305.3:p.His272Asp
NM_001304717.2:c.1333C>G NP_001291646.2:p.His445Asp
NM_001304718.1:c.223C>G NP_001291647.1:p.His75Asp
XM_006717926.2:c.769C>G XP_006717989.1:p.His257Asp
XM_011539981.1:c.814C>G XP_011538283.1:p.His272Asp
XM_011539982.1:c.718C>G XP_011538284.1:p.His240Asp
XR_945791.1:n.1384C>G
NM_000314.7:c.814C>G NP_000305.3:p.His272Asp
NM_001304717.5:c.1333C>G NP_001291646.4:p.His445Asp
NM_001304718.2:c.223C>G NP_001291647.1:p.His75Asp
NM_000314.8:c.814C>G MANE Select NP_000305.3:p.His272Asp