Canonical Allele Identifier: CA377485704
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960972A>C , CM000672.2:g.87960972A>C GRCh38
NC_000010.10:g.89720729A>C , CM000672.1:g.89720729A>C GRCh37
NC_000010.9:g.89710709A>C NCBI36
NG_007466.2:g.102534A>C , LRG_311:g.102534A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.973A>C ENSP00000514759.2:p.Ser325Arg
ENST00000710265.1:c.880A>C ENSP00000518161.1:p.Ser294Arg
ENST00000472832.3:c.880A>C ENSP00000483066.2:p.Ser294Arg
ENST00000688158.2:n.1615A>C
ENST00000688922.2:c.*710A>C ENSP00000508742.2:n.*710A>C
ENST00000700021.1:c.835A>C ENSP00000514757.1:p.Ser279Arg
ENST00000700022.1:c.*219A>C ENSP00000514758.1:n.*219A>C
ENST00000700023.1:n.2038A>C
ENST00000700024.1:n.2272A>C
ENST00000700025.1:n.1649A>C
ENST00000700026.1:n.517A>C
ENST00000706954.1:c.880A>C ENSP00000516674.1:p.Ser294Arg
ENST00000706955.1:c.*915A>C ENSP00000516675.1:n.*915A>C
ENST00000686459.1:c.*466A>C ENSP00000508909.1:n.*466A>C
ENST00000688158.1:c.*991A>C ENSP00000509254.1:n.*991A>C
ENST00000688308.1:c.880A>C ENSP00000508752.1:p.Ser294Arg
ENST00000688922.1:c.801A>C
ENST00000693560.1:c.1399A>C ENSP00000509861.1:p.Ser467Arg
ENST00000371953.8:c.880A>C MANE Select ENSP00000361021.3:p.Ser294Arg
ENST00000371953.7:c.880A>C ENSP00000361021.3:p.Ser294Arg
ENST00000472832.2:c.307A>C ENSP00000483066.1:p.Ser103Arg
NM_000314.5:c.880A>C NP_000305.3:p.Ser294Arg
NM_000314.6:c.880A>C NP_000305.3:p.Ser294Arg
NM_001304717.2:c.1399A>C NP_001291646.2:p.Ser467Arg
NM_001304718.1:c.289A>C NP_001291647.1:p.Ser97Arg
XM_006717926.2:c.835A>C XP_006717989.1:p.Ser279Arg
XM_011539981.1:c.880A>C XP_011538283.1:p.Ser294Arg
XM_011539982.1:c.784A>C XP_011538284.1:p.Ser262Arg
XR_945791.1:n.1450A>C
NM_000314.7:c.880A>C NP_000305.3:p.Ser294Arg
NM_001304717.5:c.1399A>C NP_001291646.4:p.Ser467Arg
NM_001304718.2:c.289A>C NP_001291647.1:p.Ser97Arg
NM_000314.8:c.880A>C MANE Select NP_000305.3:p.Ser294Arg