Canonical Allele Identifier: CA377484759

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1485363
• ClinVar RCV Id: RCV002008607
• dbSNP Id: rs1156887945
• COSMIC: COSM6438160
• MyVariant Identifiers: chr10:g.89717613C>T (hg19) ; chr10:g.87957856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957856C>T , CM000672.2:g.87957856C>T	GRCh38
NC_000010.10:g.89717613C>T , CM000672.1:g.89717613C>T	GRCh37
NC_000010.9:g.89707593C>T	NCBI36
NG_007466.2:g.99418C>T , LRG_311:g.99418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.638C>T	ENSP00000514759.2:p.Pro213Leu
ENST00000710265.1:c.638C>T	ENSP00000518161.1:p.Pro213Leu
ENST00000472832.3:c.638C>T	ENSP00000483066.2:p.Pro213Leu
ENST00000688158.2:n.1373C>T
ENST00000688922.2:c.*468C>T	ENSP00000508742.2:n.*468C>T
ENST00000700021.1:c.593C>T	ENSP00000514757.1:p.Pro198Leu
ENST00000700022.1:c.496C>T	ENSP00000514758.1:p.Leu166Phe
ENST00000700023.1:n.1796C>T
ENST00000700024.1:n.2030C>T
ENST00000700025.1:n.1407C>T
ENST00000700026.1:n.275C>T
ENST00000700029.1:c.472C>T
ENST00000706954.1:c.638C>T	ENSP00000516674.1:p.Pro213Leu
ENST00000706955.1:c.*673C>T	ENSP00000516675.1:n.*673C>T
ENST00000686459.1:c.*224C>T	ENSP00000508909.1:n.*224C>T
ENST00000688158.1:c.*749C>T	ENSP00000509254.1:n.*749C>T
ENST00000688308.1:c.638C>T	ENSP00000508752.1:p.Pro213Leu
ENST00000688922.1:c.559C>T
ENST00000693560.1:c.1157C>T	ENSP00000509861.1:p.Pro386Leu
ENST00000371953.8:c.638C>T MANE Select	ENSP00000361021.3:p.Pro213Leu
ENST00000371953.7:c.638C>T	ENSP00000361021.3:p.Pro213Leu
ENST00000472832.2:c.65C>T	ENSP00000483066.1:p.Pro22Leu
NM_000314.5:c.638C>T	NP_000305.3:p.Pro213Leu
NM_000314.6:c.638C>T	NP_000305.3:p.Pro213Leu
NM_001304717.2:c.1157C>T	NP_001291646.2:p.Pro386Leu
NM_001304718.1:c.47C>T	NP_001291647.1:p.Pro16Leu
XM_006717926.2:c.593C>T	XP_006717989.1:p.Pro198Leu
XM_011539981.1:c.638C>T	XP_011538283.1:p.Pro213Leu
XM_011539982.1:c.542C>T	XP_011538284.1:p.Pro181Leu
XR_945791.1:n.1208C>T
NM_000314.7:c.638C>T	NP_000305.3:p.Pro213Leu
NM_001304717.5:c.1157C>T	NP_001291646.4:p.Pro386Leu
NM_001304718.2:c.47C>T	NP_001291647.1:p.Pro16Leu
NM_000314.8:c.638C>T MANE Select	NP_000305.3:p.Pro213Leu