Canonical Allele Identifier: CA377485072
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958002A>C , CM000672.2:g.87958002A>C GRCh38
NC_000010.10:g.89717759A>C , CM000672.1:g.89717759A>C GRCh37
NC_000010.9:g.89707739A>C NCBI36
NG_007466.2:g.99564A>C , LRG_311:g.99564A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.784A>C ENSP00000514759.2:p.Asn262His
ENST00000710265.1:c.784A>C ENSP00000518161.1:p.Asn262His
ENST00000472832.3:c.784A>C ENSP00000483066.2:p.Asn262His
ENST00000688158.2:n.1519A>C
ENST00000688922.2:c.*614A>C ENSP00000508742.2:n.*614A>C
ENST00000700021.1:c.739A>C ENSP00000514757.1:p.Asn247His
ENST00000700022.1:c.*123A>C ENSP00000514758.1:n.*123A>C
ENST00000700023.1:n.1942A>C
ENST00000700024.1:n.2176A>C
ENST00000700025.1:n.1553A>C
ENST00000700026.1:n.421A>C
ENST00000700029.1:c.618A>C
ENST00000706954.1:c.784A>C ENSP00000516674.1:p.Asn262His
ENST00000706955.1:c.*819A>C ENSP00000516675.1:n.*819A>C
ENST00000686459.1:c.*370A>C ENSP00000508909.1:n.*370A>C
ENST00000688158.1:c.*895A>C ENSP00000509254.1:n.*895A>C
ENST00000688308.1:c.784A>C ENSP00000508752.1:p.Asn262His
ENST00000688922.1:c.705A>C
ENST00000693560.1:c.1303A>C ENSP00000509861.1:p.Asn435His
ENST00000371953.8:c.784A>C MANE Select ENSP00000361021.3:p.Asn262His
ENST00000371953.7:c.784A>C ENSP00000361021.3:p.Asn262His
ENST00000472832.2:c.211A>C ENSP00000483066.1:p.Asn71His
NM_000314.5:c.784A>C NP_000305.3:p.Asn262His
NM_000314.6:c.784A>C NP_000305.3:p.Asn262His
NM_001304717.2:c.1303A>C NP_001291646.2:p.Asn435His
NM_001304718.1:c.193A>C NP_001291647.1:p.Asn65His
XM_006717926.2:c.739A>C XP_006717989.1:p.Asn247His
XM_011539981.1:c.784A>C XP_011538283.1:p.Asn262His
XM_011539982.1:c.688A>C XP_011538284.1:p.Asn230His
XR_945791.1:n.1354A>C
NM_000314.7:c.784A>C NP_000305.3:p.Asn262His
NM_001304717.5:c.1303A>C NP_001291646.4:p.Asn435His
NM_001304718.2:c.193A>C NP_001291647.1:p.Asn65His
NM_000314.8:c.784A>C MANE Select NP_000305.3:p.Asn262His