Canonical Allele Identifier: CA377484964
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 965633
ClinVar RCV Id: RCV001240131
dbSNP Id: rs1860546467
MyVariant Identifiers: chr10:g.89717711C>A (hg19) chr10:g.87957954C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957954C>A , CM000672.2:g.87957954C>A GRCh38
NC_000010.10:g.89717711C>A , CM000672.1:g.89717711C>A GRCh37
NC_000010.9:g.89707691C>A NCBI36
NG_007466.2:g.99516C>A , LRG_311:g.99516C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.736C>A ENSP00000514759.2:p.Pro246Thr
ENST00000710265.1:c.736C>A ENSP00000518161.1:p.Pro246Thr
ENST00000472832.3:c.736C>A ENSP00000483066.2:p.Pro246Thr
ENST00000688158.2:n.1471C>A
ENST00000688922.2:c.*566C>A ENSP00000508742.2:n.*566C>A
ENST00000700021.1:c.691C>A ENSP00000514757.1:p.Pro231Thr
ENST00000700022.1:c.*75C>A ENSP00000514758.1:n.*75C>A
ENST00000700023.1:n.1894C>A
ENST00000700024.1:n.2128C>A
ENST00000700025.1:n.1505C>A
ENST00000700026.1:n.373C>A
ENST00000700029.1:c.570C>A
ENST00000706954.1:c.736C>A ENSP00000516674.1:p.Pro246Thr
ENST00000706955.1:c.*771C>A ENSP00000516675.1:n.*771C>A
ENST00000686459.1:c.*322C>A ENSP00000508909.1:n.*322C>A
ENST00000688158.1:c.*847C>A ENSP00000509254.1:n.*847C>A
ENST00000688308.1:c.736C>A ENSP00000508752.1:p.Pro246Thr
ENST00000688922.1:c.657C>A
ENST00000693560.1:c.1255C>A ENSP00000509861.1:p.Pro419Thr
ENST00000371953.8:c.736C>A MANE Select ENSP00000361021.3:p.Pro246Thr
ENST00000371953.7:c.736C>A ENSP00000361021.3:p.Pro246Thr
ENST00000472832.2:c.163C>A ENSP00000483066.1:p.Pro55Thr
NM_000314.5:c.736C>A NP_000305.3:p.Pro246Thr
NM_000314.6:c.736C>A NP_000305.3:p.Pro246Thr
NM_001304717.2:c.1255C>A NP_001291646.2:p.Pro419Thr
NM_001304718.1:c.145C>A NP_001291647.1:p.Pro49Thr
XM_006717926.2:c.691C>A XP_006717989.1:p.Pro231Thr
XM_011539981.1:c.736C>A XP_011538283.1:p.Pro246Thr
XM_011539982.1:c.640C>A XP_011538284.1:p.Pro214Thr
XR_945791.1:n.1306C>A
NM_000314.7:c.736C>A NP_000305.3:p.Pro246Thr
NM_001304717.5:c.1255C>A NP_001291646.4:p.Pro419Thr
NM_001304718.2:c.145C>A NP_001291647.1:p.Pro49Thr
NM_000314.8:c.736C>A MANE Select NP_000305.3:p.Pro246Thr
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