Canonical Allele Identifier: CA000207

Gene: PTEN

Linked Data

• ClinVar Variation Id: 184277
• ClinVar RCV Id: RCV000163498 ; RCV001269397 ; RCV001559615 ; RCV003454396 ; RCV003493469
• dbSNP Id: rs398123329
• gnomAD v3: 10-87960922-C-T
• gnomAD v4: 10-87960922-C-T
• COSMIC: COSM35645
• MyVariant Identifiers: chr10:g.89720679C>T (hg19) ; chr10:g.87960922C>T (hg38)
• ERepo: CA000207/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960922C>T , CM000672.2:g.87960922C>T	GRCh38
NC_000010.10:g.89720679C>T , CM000672.1:g.89720679C>T	GRCh37
NC_000010.9:g.89710659C>T	NCBI36
NG_007466.2:g.102484C>T , LRG_311:g.102484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.923C>T	ENSP00000514759.2:p.Thr308Ile
ENST00000710265.1:c.830C>T	ENSP00000518161.1:p.Thr277Ile
ENST00000472832.3:c.830C>T	ENSP00000483066.2:p.Thr277Ile
ENST00000688158.2:n.1565C>T
ENST00000688922.2:c.*660C>T	ENSP00000508742.2:n.*660C>T
ENST00000700021.1:c.785C>T	ENSP00000514757.1:p.Thr262Ile
ENST00000700022.1:c.*169C>T	ENSP00000514758.1:n.*169C>T
ENST00000700023.1:n.1988C>T
ENST00000700024.1:n.2222C>T
ENST00000700025.1:n.1599C>T
ENST00000700026.1:n.467C>T
ENST00000700029.1:c.757C>T
ENST00000706954.1:c.830C>T	ENSP00000516674.1:p.Thr277Ile
ENST00000706955.1:c.*865C>T	ENSP00000516675.1:n.*865C>T
ENST00000686459.1:c.*416C>T	ENSP00000508909.1:n.*416C>T
ENST00000688158.1:c.*941C>T	ENSP00000509254.1:n.*941C>T
ENST00000688308.1:c.830C>T	ENSP00000508752.1:p.Thr277Ile
ENST00000688922.1:c.751C>T
ENST00000693560.1:c.1349C>T	ENSP00000509861.1:p.Thr450Ile
ENST00000371953.8:c.830C>T MANE Select	ENSP00000361021.3:p.Thr277Ile
ENST00000371953.7:c.830C>T	ENSP00000361021.3:p.Thr277Ile
ENST00000472832.2:c.257C>T	ENSP00000483066.1:p.Thr86Ile
NM_000314.5:c.830C>T	NP_000305.3:p.Thr277Ile
NM_000314.6:c.830C>T	NP_000305.3:p.Thr277Ile
NM_001304717.2:c.1349C>T	NP_001291646.2:p.Thr450Ile
NM_001304718.1:c.239C>T	NP_001291647.1:p.Thr80Ile
XM_006717926.2:c.785C>T	XP_006717989.1:p.Thr262Ile
XM_011539981.1:c.830C>T	XP_011538283.1:p.Thr277Ile
XM_011539982.1:c.734C>T	XP_011538284.1:p.Thr245Ile
XR_945791.1:n.1400C>T
NM_000314.7:c.830C>T	NP_000305.3:p.Thr277Ile
NM_001304717.5:c.1349C>T	NP_001291646.4:p.Thr450Ile
NM_001304718.2:c.239C>T	NP_001291647.1:p.Thr80Ile
NM_000314.8:c.830C>T MANE Select	NP_000305.3:p.Thr277Ile