Canonical Allele Identifier: CA377487175

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1685048
• ClinVar RCV Id: RCV002248140 ; RCV003164352
• dbSNP Id: rs2132289421
• COSMIC: COSM5945178
• MyVariant Identifiers: chr10:g.89725081C>T (hg19) ; chr10:g.87965324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965324C>T , CM000672.2:g.87965324C>T	GRCh38
NC_000010.10:g.89725081C>T , CM000672.1:g.89725081C>T	GRCh37
NC_000010.9:g.89715061C>T	NCBI36
NG_007466.2:g.106886C>T , LRG_311:g.106886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1157C>T	ENSP00000514759.2:p.Ser386Leu
ENST00000710265.1:c.*93C>T	ENSP00000518161.1:n.*93C>T
ENST00000688158.2:n.1799C>T
ENST00000688922.2:c.*894C>T	ENSP00000508742.2:n.*894C>T
ENST00000700021.1:c.1019C>T	ENSP00000514757.1:p.Ser340Leu
ENST00000700022.1:c.*403C>T	ENSP00000514758.1:n.*403C>T
ENST00000700023.1:n.2222C>T
ENST00000700024.1:n.2456C>T
ENST00000706954.1:c.1064C>T	ENSP00000516674.1:p.Ser355Leu
ENST00000706955.1:c.*1099C>T	ENSP00000516675.1:n.*1099C>T
ENST00000686459.1:c.*650C>T	ENSP00000508909.1:n.*650C>T
ENST00000688158.1:c.*1175C>T	ENSP00000509254.1:n.*1175C>T
ENST00000688308.1:c.1064C>T	ENSP00000508752.1:p.Ser355Leu
ENST00000688922.1:c.985C>T
ENST00000693560.1:c.1583C>T	ENSP00000509861.1:p.Ser528Leu
ENST00000371953.8:c.1064C>T MANE Select	ENSP00000361021.3:p.Ser355Leu
ENST00000371953.7:c.1064C>T	ENSP00000361021.3:p.Ser355Leu
NM_000314.5:c.1064C>T	NP_000305.3:p.Ser355Leu
NM_000314.6:c.1064C>T	NP_000305.3:p.Ser355Leu
NM_001304717.2:c.1583C>T	NP_001291646.2:p.Ser528Leu
NM_001304718.1:c.473C>T	NP_001291647.1:p.Ser158Leu
XM_006717926.2:c.1019C>T	XP_006717989.1:p.Ser340Leu
XM_011539982.1:c.968C>T	XP_011538284.1:p.Ser323Leu
XR_945791.1:n.1634C>T
NM_000314.7:c.1064C>T	NP_000305.3:p.Ser355Leu
NM_001304717.5:c.1583C>T	NP_001291646.4:p.Ser528Leu
NM_001304718.2:c.473C>T	NP_001291647.1:p.Ser158Leu
NM_000314.8:c.1064C>T MANE Select	NP_000305.3:p.Ser355Leu