Canonical Allele Identifier: CA377484815
Gene: PTEN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957883T>C , CM000672.2:g.87957883T>C GRCh38
NC_000010.10:g.89717640T>C , CM000672.1:g.89717640T>C GRCh37
NC_000010.9:g.89707620T>C NCBI36
NG_007466.2:g.99445T>C , LRG_311:g.99445T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.665T>C ENSP00000514759.2:p.Val222Ala
ENST00000710265.1:c.665T>C ENSP00000518161.1:p.Val222Ala
ENST00000472832.3:c.665T>C ENSP00000483066.2:p.Val222Ala
ENST00000688158.2:n.1400T>C
ENST00000688922.2:c.*495T>C ENSP00000508742.2:n.*495T>C
ENST00000700021.1:c.620T>C ENSP00000514757.1:p.Val207Ala
ENST00000700022.1:c.*4T>C ENSP00000514758.1:n.*4T>C
ENST00000700023.1:n.1823T>C
ENST00000700024.1:n.2057T>C
ENST00000700025.1:n.1434T>C
ENST00000700026.1:n.302T>C
ENST00000700029.1:c.499T>C
ENST00000706954.1:c.665T>C ENSP00000516674.1:p.Val222Ala
ENST00000706955.1:c.*700T>C ENSP00000516675.1:n.*700T>C
ENST00000686459.1:c.*251T>C ENSP00000508909.1:n.*251T>C
ENST00000688158.1:c.*776T>C ENSP00000509254.1:n.*776T>C
ENST00000688308.1:c.665T>C ENSP00000508752.1:p.Val222Ala
ENST00000688922.1:c.586T>C
ENST00000693560.1:c.1184T>C ENSP00000509861.1:p.Val395Ala
ENST00000371953.8:c.665T>C MANE Select ENSP00000361021.3:p.Val222Ala
ENST00000371953.7:c.665T>C ENSP00000361021.3:p.Val222Ala
ENST00000472832.2:c.92T>C ENSP00000483066.1:p.Val31Ala
NM_000314.5:c.665T>C NP_000305.3:p.Val222Ala
NM_000314.6:c.665T>C NP_000305.3:p.Val222Ala
NM_001304717.2:c.1184T>C NP_001291646.2:p.Val395Ala
NM_001304718.1:c.74T>C NP_001291647.1:p.Val25Ala
XM_006717926.2:c.620T>C XP_006717989.1:p.Val207Ala
XM_011539981.1:c.665T>C XP_011538283.1:p.Val222Ala
XM_011539982.1:c.569T>C XP_011538284.1:p.Val190Ala
XR_945791.1:n.1235T>C
NM_000314.7:c.665T>C NP_000305.3:p.Val222Ala
NM_001304717.5:c.1184T>C NP_001291646.4:p.Val395Ala
NM_001304718.2:c.74T>C NP_001291647.1:p.Val25Ala
NM_000314.8:c.665T>C MANE Select NP_000305.3:p.Val222Ala
Search 100 bp 5'
Search 100 bp 3'