Canonical Allele Identifier: CA377487505

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1750526
• ClinVar RCV Id: RCV002355830
• COSMIC: COSM5335
• MyVariant Identifiers: chr10:g.89725228G>C (hg19) ; chr10:g.87965471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965471G>C , CM000672.2:g.87965471G>C	GRCh38
NC_000010.10:g.89725228G>C , CM000672.1:g.89725228G>C	GRCh37
NC_000010.9:g.89715208G>C	NCBI36
NG_007466.2:g.107033G>C , LRG_311:g.107033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1304G>C	ENSP00000514759.2:p.Ter435Ser
ENST00000710265.1:c.*240G>C	ENSP00000518161.1:n.*240G>C
ENST00000688158.2:n.1946G>C
ENST00000688922.2:c.*1041G>C	ENSP00000508742.2:n.*1041G>C
ENST00000700021.1:c.1166G>C	ENSP00000514757.1:p.Ter389Ser
ENST00000700022.1:c.*550G>C	ENSP00000514758.1:n.*550G>C
ENST00000700023.1:n.2369G>C
ENST00000700024.1:n.2603G>C
ENST00000706954.1:c.1211G>C	ENSP00000516674.1:p.Ter404Ser
ENST00000706955.1:c.*1246G>C	ENSP00000516675.1:n.*1246G>C
ENST00000686459.1:c.*797G>C	ENSP00000508909.1:n.*797G>C
ENST00000688158.1:c.*1322G>C	ENSP00000509254.1:n.*1322G>C
ENST00000688308.1:c.1211G>C	ENSP00000508752.1:p.Ter404Ser
ENST00000688922.1:c.1132G>C
ENST00000693560.1:c.1730G>C	ENSP00000509861.1:p.Ter577Ser
ENST00000371953.8:c.1211G>C MANE Select	ENSP00000361021.3:p.Ter404Ser
ENST00000371953.7:c.1211G>C	ENSP00000361021.3:p.Ter404Ser
NM_000314.5:c.1211G>C	NP_000305.3:p.Ter404Ser
NM_000314.6:c.1211G>C	NP_000305.3:p.Ter404Ser
NM_001304717.2:c.1730G>C	NP_001291646.2:p.Ter577Ser
NM_001304718.1:c.620G>C	NP_001291647.1:p.Ter207Ser
XM_006717926.2:c.1166G>C	XP_006717989.1:p.Ter389Ser
XM_011539982.1:c.1115G>C	XP_011538284.1:p.Ter372Ser
XR_945791.1:n.1781G>C
NM_000314.7:c.1211G>C	NP_000305.3:p.Ter404Ser
NM_001304717.5:c.1730G>C	NP_001291646.4:p.Ter577Ser
NM_001304718.2:c.620G>C	NP_001291647.1:p.Ter207Ser
NM_000314.8:c.1211G>C MANE Select	NP_000305.3:p.Ter404Ser