Canonical Allele Identifier: CA211453291
Community Standard Title: NM_000314.8(PTEN):c.-475G>A
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863995G>A , CM000672.2:g.87863995G>A GRCh38
NC_000010.10:g.89623752G>A , CM000672.1:g.89623752G>A GRCh37
NC_000010.9:g.89613732G>A NCBI36
NG_007466.2:g.5558G>A , LRG_311:g.5558G>A
NG_033079.1:g.4443C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.-475G>A MANE Select NP_000305.3:n.-475G>A
ENST00000371953.8:c.-475G>A MANE Select ENSP00000361021.3:n.-475G>A
NM_000314.5:c.-474G>A NP_000305.3:n.-474G>A
NM_000314.6:c.-474G>A NP_000305.3:n.-474G>A
NM_000314.7:c.-474G>A NP_000305.3:n.-474G>A
NM_001304717.2:c.46G>A NP_001291646.2:p.Ala16Thr
NM_001304717.5:c.46G>A NP_001291646.4:p.Ala16Thr
NM_001304718.1:c.-1179G>A NP_001291647.1:n.-1179G>A
NM_001304718.2:c.-1179G>A NP_001291647.1:n.-1179G>A
ENST00000371953.7:c.-475G>A ENSP00000361021.3:n.-475G>A
ENST00000610634.1:c.-577G>A ENSP00000477517.1:n.-577G>A
ENST00000688158.1:c.-475G>A ENSP00000509254.1:n.-475G>A
ENST00000688308.1:c.-16-459G>A ENSP00000508752.1:n.-16-459G>A
ENST00000693560.1:c.46G>A ENSP00000509861.1:p.Ala16Thr
ENST00000700021.1:c.-475G>A ENSP00000514757.1:n.-475G>A
ENST00000700029.2:c.-475G>A ENSP00000514759.2:n.-475G>A
ENST00000706954.1:c.-16-459G>A ENSP00000516674.1:n.-16-459G>A
ENST00000706955.1:c.-475G>A ENSP00000516675.1:n.-475G>A
ENST00000710265.1:c.-475G>A ENSP00000518161.1:n.-475G>A
XM_006717926.2:c.-475G>A XP_006717989.1:n.-475G>A
XM_011539981.1:c.-475G>A XP_011538283.1:n.-475G>A
XR_945789.1:n.238G>A
XR_945790.1:n.238G>A
XR_945791.1:n.238G>A