Canonical Allele Identifier: CA377485824

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1700398
• ClinVar RCV Id: RCV002274647
• dbSNP Id: rs2132282639
• MyVariant Identifiers: chr10:g.89720761C>A (hg19) ; chr10:g.87961004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961004C>A , CM000672.2:g.87961004C>A	GRCh38
NC_000010.10:g.89720761C>A , CM000672.1:g.89720761C>A	GRCh37
NC_000010.9:g.89710741C>A	NCBI36
NG_007466.2:g.102566C>A , LRG_311:g.102566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1005C>A	ENSP00000514759.2:p.Cys335Ter
ENST00000710265.1:c.912C>A	ENSP00000518161.1:p.Cys304Ter
ENST00000472832.3:c.912C>A	ENSP00000483066.2:p.Cys304Ter
ENST00000688158.2:n.1647C>A
ENST00000688922.2:c.*742C>A	ENSP00000508742.2:n.*742C>A
ENST00000700021.1:c.867C>A	ENSP00000514757.1:p.Cys289Ter
ENST00000700022.1:c.*251C>A	ENSP00000514758.1:n.*251C>A
ENST00000700023.1:n.2070C>A
ENST00000700024.1:n.2304C>A
ENST00000700025.1:n.1681C>A
ENST00000700026.1:n.549C>A
ENST00000706954.1:c.912C>A	ENSP00000516674.1:p.Cys304Ter
ENST00000706955.1:c.*947C>A	ENSP00000516675.1:n.*947C>A
ENST00000686459.1:c.*498C>A	ENSP00000508909.1:n.*498C>A
ENST00000688158.1:c.*1023C>A	ENSP00000509254.1:n.*1023C>A
ENST00000688308.1:c.912C>A	ENSP00000508752.1:p.Cys304Ter
ENST00000688922.1:c.833C>A
ENST00000693560.1:c.1431C>A	ENSP00000509861.1:p.Cys477Ter
ENST00000371953.8:c.912C>A MANE Select	ENSP00000361021.3:p.Cys304Ter
ENST00000371953.7:c.912C>A	ENSP00000361021.3:p.Cys304Ter
ENST00000472832.2:c.339C>A	ENSP00000483066.1:p.Cys113Ter
NM_000314.5:c.912C>A	NP_000305.3:p.Cys304Ter
NM_000314.6:c.912C>A	NP_000305.3:p.Cys304Ter
NM_001304717.2:c.1431C>A	NP_001291646.2:p.Cys477Ter
NM_001304718.1:c.321C>A	NP_001291647.1:p.Cys107Ter
XM_006717926.2:c.867C>A	XP_006717989.1:p.Cys289Ter
XM_011539981.1:c.912C>A	XP_011538283.1:p.Cys304Ter
XM_011539982.1:c.816C>A	XP_011538284.1:p.Cys272Ter
XR_945791.1:n.1482C>A
NM_000314.7:c.912C>A	NP_000305.3:p.Cys304Ter
NM_001304717.5:c.1431C>A	NP_001291646.4:p.Cys477Ter
NM_001304718.2:c.321C>A	NP_001291647.1:p.Cys107Ter
NM_000314.8:c.912C>A MANE Select	NP_000305.3:p.Cys304Ter