Canonical Allele Identifier: CA377781758
Community Standard Title: NM_000314.8(PTEN):c.2T>C (p.Met1Thr)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87864471T>C , CM000672.2:g.87864471T>C GRCh38
NC_000010.10:g.89624228T>C , CM000672.1:g.89624228T>C GRCh37
NC_000010.9:g.89614208T>C NCBI36
NG_007466.2:g.6033T>C , LRG_311:g.6033T>C
NG_033079.1:g.3967A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.2T>C MANE Select NP_000305.3:p.Met1Thr
ENST00000371953.8:c.2T>C MANE Select ENSP00000361021.3:p.Met1Thr
NM_000314.5:c.2T>C NP_000305.3:p.Met1Thr
NM_000314.6:c.2T>C NP_000305.3:p.Met1Thr
NM_000314.7:c.2T>C NP_000305.3:p.Met1Thr
NM_001304717.2:c.521T>C NP_001291646.2:p.Met174Thr
NM_001304717.5:c.521T>C NP_001291646.4:p.Met174Thr
NM_001304718.1:c.-704T>C NP_001291647.1:n.-704T>C
NM_001304718.2:c.-704T>C NP_001291647.1:n.-704T>C
ENST00000371953.7:c.2T>C ENSP00000361021.3:p.Met1Thr
ENST00000462694.1:n.4T>C
ENST00000472832.3:c.2T>C ENSP00000483066.2:p.Met1Thr
ENST00000487939.1:n.23T>C
ENST00000610634.1:c.-101T>C ENSP00000477517.1:n.-101T>C
ENST00000686459.1:c.2T>C ENSP00000508909.1:p.Met1Thr
ENST00000688158.1:c.2T>C ENSP00000509254.1:p.Met1Thr
ENST00000688308.1:c.2T>C ENSP00000508752.1:p.Met1Thr
ENST00000688922.2:c.2T>C ENSP00000508742.2:p.Met1Thr
ENST00000693560.1:c.521T>C ENSP00000509861.1:p.Met174Thr
ENST00000700021.1:c.2T>C ENSP00000514757.1:p.Met1Thr
ENST00000700022.1:c.2T>C ENSP00000514758.1:p.Met1Thr
ENST00000700029.2:c.2T>C ENSP00000514759.2:p.Met1Thr
ENST00000706954.1:c.2T>C ENSP00000516674.1:p.Met1Thr
ENST00000706955.1:c.2T>C ENSP00000516675.1:p.Met1Thr
ENST00000710265.1:c.2T>C ENSP00000518161.1:p.Met1Thr
XM_006717926.2:c.2T>C XP_006717989.1:p.Met1Thr
XM_011539981.1:c.2T>C XP_011538283.1:p.Met1Thr
XR_945789.1:n.714T>C
XR_945790.1:n.714T>C
XR_945791.1:n.714T>C