Canonical Allele Identifier: CA377484292

Gene: PTEN

Linked Data

• ClinVar Variation Id: 825490
• ClinVar RCV Id: RCV001023638
• dbSNP Id: rs1589659399
• MyVariant Identifiers: chr10:g.89711897G>C (hg19) ; chr10:g.87952140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952140G>C , CM000672.2:g.87952140G>C	GRCh38
NC_000010.10:g.89711897G>C , CM000672.1:g.89711897G>C	GRCh37
NC_000010.9:g.89701877G>C	NCBI36
NG_007466.2:g.93702G>C , LRG_311:g.93702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.515G>C	ENSP00000514759.2:p.Arg172Thr
ENST00000710265.1:c.515G>C	ENSP00000518161.1:p.Arg172Thr
ENST00000472832.3:c.515G>C	ENSP00000483066.2:p.Arg172Thr
ENST00000688158.2:n.1250G>C
ENST00000688922.2:c.*345G>C	ENSP00000508742.2:n.*345G>C
ENST00000700021.1:c.470G>C	ENSP00000514757.1:p.Arg157Thr
ENST00000700022.1:c.493-5713G>C	ENSP00000514758.1:n.493-5713G>C
ENST00000700023.1:n.1673G>C
ENST00000700024.1:n.1907G>C
ENST00000700025.1:n.1284G>C
ENST00000700029.1:c.349G>C
ENST00000706954.1:c.515G>C	ENSP00000516674.1:p.Arg172Thr
ENST00000706955.1:c.*550G>C	ENSP00000516675.1:n.*550G>C
ENST00000686459.1:c.*101G>C	ENSP00000508909.1:n.*101G>C
ENST00000688158.1:c.*626G>C	ENSP00000509254.1:n.*626G>C
ENST00000688308.1:c.515G>C	ENSP00000508752.1:p.Arg172Thr
ENST00000688922.1:c.436G>C
ENST00000693560.1:c.1034G>C	ENSP00000509861.1:p.Arg345Thr
ENST00000371953.8:c.515G>C MANE Select	ENSP00000361021.3:p.Arg172Thr
ENST00000371953.7:c.515G>C	ENSP00000361021.3:p.Arg172Thr
NM_000314.5:c.515G>C	NP_000305.3:p.Arg172Thr
NM_000314.6:c.515G>C	NP_000305.3:p.Arg172Thr
NM_001304717.2:c.1034G>C	NP_001291646.2:p.Arg345Thr
NM_001304718.1:c.-77G>C	NP_001291647.1:n.-77G>C
XM_006717926.2:c.470G>C	XP_006717989.1:p.Arg157Thr
XM_011539981.1:c.515G>C	XP_011538283.1:p.Arg172Thr
XM_011539982.1:c.419G>C	XP_011538284.1:p.Arg140Thr
XR_945789.1:n.1386G>C
XR_945790.1:n.1503G>C
XR_945791.1:n.1205-5713G>C
NM_000314.7:c.515G>C	NP_000305.3:p.Arg172Thr
NM_001304717.5:c.1034G>C	NP_001291646.4:p.Arg345Thr
NM_001304718.2:c.-77G>C	NP_001291647.1:n.-77G>C
NM_000314.8:c.515G>C MANE Select	NP_000305.3:p.Arg172Thr