Canonical Allele Identifier: CA16612917

Gene: PTEN

Linked Data

• ClinVar Variation Id: 404169
• ClinVar RCV Id: RCV000459824 ; RCV001192089
• dbSNP Id: rs1060500127
• MyVariant Identifiers: chr10:g.89725096G>C (hg19) ; chr10:g.87965339G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965339G>C , CM000672.2:g.87965339G>C	GRCh38
NC_000010.10:g.89725096G>C , CM000672.1:g.89725096G>C	GRCh37
NC_000010.9:g.89715076G>C	NCBI36
NG_007466.2:g.106901G>C , LRG_311:g.106901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1172G>C	ENSP00000514759.2:p.Ser391Thr
ENST00000710265.1:c.*108G>C	ENSP00000518161.1:n.*108G>C
ENST00000688158.2:n.1814G>C
ENST00000688922.2:c.*909G>C	ENSP00000508742.2:n.*909G>C
ENST00000700021.1:c.1034G>C	ENSP00000514757.1:p.Ser345Thr
ENST00000700022.1:c.*418G>C	ENSP00000514758.1:n.*418G>C
ENST00000700023.1:n.2237G>C
ENST00000700024.1:n.2471G>C
ENST00000706954.1:c.1079G>C	ENSP00000516674.1:p.Ser360Thr
ENST00000706955.1:c.*1114G>C	ENSP00000516675.1:n.*1114G>C
ENST00000686459.1:c.*665G>C	ENSP00000508909.1:n.*665G>C
ENST00000688158.1:c.*1190G>C	ENSP00000509254.1:n.*1190G>C
ENST00000688308.1:c.1079G>C	ENSP00000508752.1:p.Ser360Thr
ENST00000688922.1:c.1000G>C
ENST00000693560.1:c.1598G>C	ENSP00000509861.1:p.Ser533Thr
ENST00000371953.8:c.1079G>C MANE Select	ENSP00000361021.3:p.Ser360Thr
ENST00000371953.7:c.1079G>C	ENSP00000361021.3:p.Ser360Thr
NM_000314.5:c.1079G>C	NP_000305.3:p.Ser360Thr
NM_000314.6:c.1079G>C	NP_000305.3:p.Ser360Thr
NM_001304717.2:c.1598G>C	NP_001291646.2:p.Ser533Thr
NM_001304718.1:c.488G>C	NP_001291647.1:p.Ser163Thr
XM_006717926.2:c.1034G>C	XP_006717989.1:p.Ser345Thr
XM_011539982.1:c.983G>C	XP_011538284.1:p.Ser328Thr
XR_945791.1:n.1649G>C
NM_000314.7:c.1079G>C	NP_000305.3:p.Ser360Thr
NM_001304717.5:c.1598G>C	NP_001291646.4:p.Ser533Thr
NM_001304718.2:c.488G>C	NP_001291647.1:p.Ser163Thr
NM_000314.8:c.1079G>C MANE Select	NP_000305.3:p.Ser360Thr