Canonical Allele Identifier: CA377484281

Gene: PTEN

Linked Data

• ClinVar Variation Id: 844941
• ClinVar RCV Id: RCV001047913 ; RCV002348382
• dbSNP Id: rs786204864
• COSMIC: COSM5200
• MyVariant Identifiers: chr10:g.89711893C>G (hg19) ; chr10:g.87952136C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952136C>G , CM000672.2:g.87952136C>G	GRCh38
NC_000010.10:g.89711893C>G , CM000672.1:g.89711893C>G	GRCh37
NC_000010.9:g.89701873C>G	NCBI36
NG_007466.2:g.93698C>G , LRG_311:g.93698C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.511C>G	ENSP00000514759.2:p.Gln171Glu
ENST00000710265.1:c.511C>G	ENSP00000518161.1:p.Gln171Glu
ENST00000472832.3:c.511C>G	ENSP00000483066.2:p.Gln171Glu
ENST00000688158.2:n.1246C>G
ENST00000688922.2:c.*341C>G	ENSP00000508742.2:n.*341C>G
ENST00000700021.1:c.466C>G	ENSP00000514757.1:p.Gln156Glu
ENST00000700022.1:c.493-5717C>G	ENSP00000514758.1:n.493-5717C>G
ENST00000700023.1:n.1669C>G
ENST00000700024.1:n.1903C>G
ENST00000700025.1:n.1280C>G
ENST00000700029.1:c.345C>G
ENST00000706954.1:c.511C>G	ENSP00000516674.1:p.Gln171Glu
ENST00000706955.1:c.*546C>G	ENSP00000516675.1:n.*546C>G
ENST00000686459.1:c.*97C>G	ENSP00000508909.1:n.*97C>G
ENST00000688158.1:c.*622C>G	ENSP00000509254.1:n.*622C>G
ENST00000688308.1:c.511C>G	ENSP00000508752.1:p.Gln171Glu
ENST00000688922.1:c.432C>G
ENST00000693560.1:c.1030C>G	ENSP00000509861.1:p.Gln344Glu
ENST00000371953.8:c.511C>G MANE Select	ENSP00000361021.3:p.Gln171Glu
ENST00000371953.7:c.511C>G	ENSP00000361021.3:p.Gln171Glu
NM_000314.5:c.511C>G	NP_000305.3:p.Gln171Glu
NM_000314.6:c.511C>G	NP_000305.3:p.Gln171Glu
NM_001304717.2:c.1030C>G	NP_001291646.2:p.Gln344Glu
NM_001304718.1:c.-81C>G	NP_001291647.1:n.-81C>G
XM_006717926.2:c.466C>G	XP_006717989.1:p.Gln156Glu
XM_011539981.1:c.511C>G	XP_011538283.1:p.Gln171Glu
XM_011539982.1:c.415C>G	XP_011538284.1:p.Gln139Glu
XR_945789.1:n.1382C>G
XR_945790.1:n.1499C>G
XR_945791.1:n.1205-5717C>G
NM_000314.7:c.511C>G	NP_000305.3:p.Gln171Glu
NM_001304717.5:c.1030C>G	NP_001291646.4:p.Gln344Glu
NM_001304718.2:c.-81C>G	NP_001291647.1:n.-81C>G
NM_000314.8:c.511C>G MANE Select	NP_000305.3:p.Gln171Glu