Canonical Allele Identifier: CA000384

Gene: PTEN

Linked Data

• ClinVar Variation Id: 92819
• ClinVar RCV Id: RCV000078612
• dbSNP Id: rs398123320
• COSMIC: COSM5120
• MyVariant Identifiers: chr10:g.89692802C>T (hg19) ; chr10:g.87933045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933045C>T , CM000672.2:g.87933045C>T	GRCh38
NC_000010.10:g.89692802C>T , CM000672.1:g.89692802C>T	GRCh37
NC_000010.9:g.89682782C>T	NCBI36
NG_007466.2:g.74607C>T , LRG_311:g.74607C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.286C>T	ENSP00000514759.2:p.Pro96Ser
ENST00000710265.1:c.286C>T	ENSP00000518161.1:p.Pro96Ser
ENST00000472832.3:c.286C>T	ENSP00000483066.2:p.Pro96Ser
ENST00000688158.2:n.1021C>T
ENST00000688922.2:c.*116C>T	ENSP00000508742.2:n.*116C>T
ENST00000700021.1:c.241C>T	ENSP00000514757.1:p.Pro81Ser
ENST00000700022.1:c.286C>T	ENSP00000514758.1:p.Pro96Ser
ENST00000700029.1:c.120C>T
ENST00000706954.1:c.286C>T	ENSP00000516674.1:p.Pro96Ser
ENST00000706955.1:c.*321C>T	ENSP00000516675.1:n.*321C>T
ENST00000686459.1:c.286C>T	ENSP00000508909.1:p.Pro96Ser
ENST00000688158.1:c.*397C>T	ENSP00000509254.1:n.*397C>T
ENST00000688308.1:c.286C>T	ENSP00000508752.1:p.Pro96Ser
ENST00000688922.1:c.207C>T
ENST00000693560.1:c.805C>T	ENSP00000509861.1:p.Pro269Ser
ENST00000371953.8:c.286C>T MANE Select	ENSP00000361021.3:p.Pro96Ser
ENST00000371953.7:c.286C>T	ENSP00000361021.3:p.Pro96Ser
ENST00000498703.1:n.112C>T
ENST00000610634.1:c.184C>T	ENSP00000477517.1:p.Pro62Ser
NM_000314.5:c.286C>T	NP_000305.3:p.Pro96Ser
NM_000314.6:c.286C>T	NP_000305.3:p.Pro96Ser
NM_001304717.2:c.805C>T	NP_001291646.2:p.Pro269Ser
NM_001304718.1:c.-465C>T	NP_001291647.1:n.-465C>T
XM_006717926.2:c.241C>T	XP_006717989.1:p.Pro81Ser
XM_011539981.1:c.286C>T	XP_011538283.1:p.Pro96Ser
XM_011539982.1:c.190C>T	XP_011538284.1:p.Pro64Ser
XR_945789.1:n.998C>T
XR_945790.1:n.998C>T
XR_945791.1:n.998C>T
NM_000314.7:c.286C>T	NP_000305.3:p.Pro96Ser
NM_001304717.5:c.805C>T	NP_001291646.4:p.Pro269Ser
NM_001304718.2:c.-465C>T	NP_001291647.1:n.-465C>T
NM_000314.8:c.286C>T MANE Select	NP_000305.3:p.Pro96Ser