Canonical Allele Identifier: CA059668

Gene: PTEN

Linked Data

• ClinVar Variation Id: 802606
• ClinVar RCV Id: RCV000988416 ; RCV003330095
• dbSNP Id: rs757177445
• ExAC: 10:89692744 A / T
• gnomAD v2: 10-89692744-A-T
• gnomAD v3: 10-87932987-A-T
• gnomAD v4: 10-87932987-A-T
• MyVariant Identifiers: chr10:g.89692744A>T (hg19) ; chr10:g.87932987A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87932987A>T , CM000672.2:g.87932987A>T	GRCh38
NC_000010.10:g.89692744A>T , CM000672.1:g.89692744A>T	GRCh37
NC_000010.9:g.89682724A>T	NCBI36
NG_007466.2:g.74549A>T , LRG_311:g.74549A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.254-26A>T	ENSP00000514759.2:n.254-26A>T
ENST00000710265.1:c.254-26A>T	ENSP00000518161.1:n.254-26A>T
ENST00000472832.3:c.254-26A>T	ENSP00000483066.2:n.254-26A>T
ENST00000688158.2:n.989-26A>T
ENST00000688922.2:c.*84-26A>T	ENSP00000508742.2:n.*84-26A>T
ENST00000700021.1:c.209-26A>T	ENSP00000514757.1:n.209-26A>T
ENST00000700022.1:c.254-26A>T	ENSP00000514758.1:n.254-26A>T
ENST00000700029.1:c.88-26A>T
ENST00000706954.1:c.254-26A>T	ENSP00000516674.1:n.254-26A>T
ENST00000706955.1:c.*289-26A>T	ENSP00000516675.1:n.*289-26A>T
ENST00000686459.1:c.254-26A>T	ENSP00000508909.1:n.254-26A>T
ENST00000688158.1:c.*365-26A>T	ENSP00000509254.1:n.*365-26A>T
ENST00000688308.1:c.254-26A>T	ENSP00000508752.1:n.254-26A>T
ENST00000688922.1:c.175-26A>T
ENST00000693560.1:c.773-26A>T	ENSP00000509861.1:n.773-26A>T
ENST00000371953.8:c.254-26A>T MANE Select	ENSP00000361021.3:n.254-26A>T
ENST00000371953.7:c.254-26A>T	ENSP00000361021.3:n.254-26A>T
ENST00000498703.1:n.80-26A>T
ENST00000610634.1:c.152-26A>T	ENSP00000477517.1:n.152-26A>T
NM_000314.5:c.254-26A>T	NP_000305.3:n.254-26A>T
NM_000314.6:c.254-26A>T	NP_000305.3:n.254-26A>T
NM_001304717.2:c.773-26A>T	NP_001291646.2:n.773-26A>T
NM_001304718.1:c.-497-26A>T	NP_001291647.1:n.-497-26A>T
XM_006717926.2:c.209-26A>T	XP_006717989.1:n.209-26A>T
XM_011539981.1:c.254-26A>T	XP_011538283.1:n.254-26A>T
XM_011539982.1:c.158-26A>T	XP_011538284.1:n.158-26A>T
XR_945789.1:n.966-26A>T
XR_945790.1:n.966-26A>T
XR_945791.1:n.966-26A>T
NM_000314.7:c.254-26A>T	NP_000305.3:n.254-26A>T
NM_001304717.5:c.773-26A>T	NP_001291646.4:n.773-26A>T
NM_001304718.2:c.-497-26A>T	NP_001291647.1:n.-497-26A>T
NM_000314.8:c.254-26A>T MANE Select	NP_000305.3:n.254-26A>T