Canonical Allele Identifier: CA470671176

Gene: PTEN

Linked Data

• ClinVar Variation Id: 492315
• ClinVar RCV Id: RCV000584599 ; RCV001477897 ; RCV001775910
• dbSNP Id: rs1554826045
• MyVariant Identifiers: chr10:g.89725115A>C (hg19) ; chr10:g.87965358A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965358A>C , CM000672.2:g.87965358A>C	GRCh38
NC_000010.10:g.89725115A>C , CM000672.1:g.89725115A>C	GRCh37
NC_000010.9:g.89715095A>C	NCBI36
NG_007466.2:g.106920A>C , LRG_311:g.106920A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1191A>C	ENSP00000514759.2:p.Thr397=
ENST00000710265.1:c.*127A>C	ENSP00000518161.1:n.*127A>C
ENST00000688158.2:n.1833A>C
ENST00000688922.2:c.*928A>C	ENSP00000508742.2:n.*928A>C
ENST00000700021.1:c.1053A>C	ENSP00000514757.1:p.Thr351=
ENST00000700022.1:c.*437A>C	ENSP00000514758.1:n.*437A>C
ENST00000700023.1:n.2256A>C
ENST00000700024.1:n.2490A>C
ENST00000706954.1:c.1098A>C	ENSP00000516674.1:p.Thr366=
ENST00000706955.1:c.*1133A>C	ENSP00000516675.1:n.*1133A>C
ENST00000686459.1:c.*684A>C	ENSP00000508909.1:n.*684A>C
ENST00000688158.1:c.*1209A>C	ENSP00000509254.1:n.*1209A>C
ENST00000688308.1:c.1098A>C	ENSP00000508752.1:p.Thr366=
ENST00000688922.1:c.1019A>C
ENST00000693560.1:c.1617A>C	ENSP00000509861.1:p.Thr539=
ENST00000371953.8:c.1098A>C MANE Select	ENSP00000361021.3:p.Thr366=
ENST00000371953.7:c.1098A>C	ENSP00000361021.3:p.Thr366=
NM_000314.5:c.1098A>C	NP_000305.3:p.Thr366=
NM_000314.6:c.1098A>C	NP_000305.3:p.Thr366=
NM_001304717.2:c.1617A>C	NP_001291646.2:p.Thr539=
NM_001304718.1:c.507A>C	NP_001291647.1:p.Thr169=
XM_006717926.2:c.1053A>C	XP_006717989.1:p.Thr351=
XM_011539982.1:c.1002A>C	XP_011538284.1:p.Thr334=
XR_945791.1:n.1668A>C
NM_000314.7:c.1098A>C	NP_000305.3:p.Thr366=
NM_001304717.5:c.1617A>C	NP_001291646.4:p.Thr539=
NM_001304718.2:c.507A>C	NP_001291647.1:p.Thr169=
NM_000314.8:c.1098A>C MANE Select	NP_000305.3:p.Thr366=