Canonical Allele Identifier: CA377484821

Gene: PTEN

Linked Data

• ClinVar Variation Id: 574870
• ClinVar RCV Id: RCV000696921
• dbSNP Id: rs778528056
• MyVariant Identifiers: chr10:g.89717643A>G (hg19) ; chr10:g.87957886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957886A>G , CM000672.2:g.87957886A>G	GRCh38
NC_000010.10:g.89717643A>G , CM000672.1:g.89717643A>G	GRCh37
NC_000010.9:g.89707623A>G	NCBI36
NG_007466.2:g.99448A>G , LRG_311:g.99448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.668A>G	ENSP00000514759.2:p.Lys223Arg
ENST00000710265.1:c.668A>G	ENSP00000518161.1:p.Lys223Arg
ENST00000472832.3:c.668A>G	ENSP00000483066.2:p.Lys223Arg
ENST00000688158.2:n.1403A>G
ENST00000688922.2:c.*498A>G	ENSP00000508742.2:n.*498A>G
ENST00000700021.1:c.623A>G	ENSP00000514757.1:p.Lys208Arg
ENST00000700022.1:c.*7A>G	ENSP00000514758.1:n.*7A>G
ENST00000700023.1:n.1826A>G
ENST00000700024.1:n.2060A>G
ENST00000700025.1:n.1437A>G
ENST00000700026.1:n.305A>G
ENST00000700029.1:c.502A>G
ENST00000706954.1:c.668A>G	ENSP00000516674.1:p.Lys223Arg
ENST00000706955.1:c.*703A>G	ENSP00000516675.1:n.*703A>G
ENST00000686459.1:c.*254A>G	ENSP00000508909.1:n.*254A>G
ENST00000688158.1:c.*779A>G	ENSP00000509254.1:n.*779A>G
ENST00000688308.1:c.668A>G	ENSP00000508752.1:p.Lys223Arg
ENST00000688922.1:c.589A>G
ENST00000693560.1:c.1187A>G	ENSP00000509861.1:p.Lys396Arg
ENST00000371953.8:c.668A>G MANE Select	ENSP00000361021.3:p.Lys223Arg
ENST00000371953.7:c.668A>G	ENSP00000361021.3:p.Lys223Arg
ENST00000472832.2:c.95A>G	ENSP00000483066.1:p.Lys32Arg
NM_000314.5:c.668A>G	NP_000305.3:p.Lys223Arg
NM_000314.6:c.668A>G	NP_000305.3:p.Lys223Arg
NM_001304717.2:c.1187A>G	NP_001291646.2:p.Lys396Arg
NM_001304718.1:c.77A>G	NP_001291647.1:p.Lys26Arg
XM_006717926.2:c.623A>G	XP_006717989.1:p.Lys208Arg
XM_011539981.1:c.668A>G	XP_011538283.1:p.Lys223Arg
XM_011539982.1:c.572A>G	XP_011538284.1:p.Lys191Arg
XR_945791.1:n.1238A>G
NM_000314.7:c.668A>G	NP_000305.3:p.Lys223Arg
NM_001304717.5:c.1187A>G	NP_001291646.4:p.Lys396Arg
NM_001304718.2:c.77A>G	NP_001291647.1:p.Lys26Arg
NM_000314.8:c.668A>G MANE Select	NP_000305.3:p.Lys223Arg