Canonical Allele Identifier: CA377484586

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2814792
• ClinVar RCV Id: RCV003620759
• dbSNP Id: rs1589659663
• MyVariant Identifiers: chr10:g.89711979G>C (hg19) ; chr10:g.87952222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952222G>C , CM000672.2:g.87952222G>C	GRCh38
NC_000010.10:g.89711979G>C , CM000672.1:g.89711979G>C	GRCh37
NC_000010.9:g.89701959G>C	NCBI36
NG_007466.2:g.93784G>C , LRG_311:g.93784G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.597G>C	ENSP00000514759.2:p.Met199Ile
ENST00000710265.1:c.597G>C	ENSP00000518161.1:p.Met199Ile
ENST00000472832.3:c.597G>C	ENSP00000483066.2:p.Met199Ile
ENST00000688158.2:n.1332G>C
ENST00000688922.2:c.*427G>C	ENSP00000508742.2:n.*427G>C
ENST00000700021.1:c.552G>C	ENSP00000514757.1:p.Met184Ile
ENST00000700022.1:c.493-5631G>C	ENSP00000514758.1:n.493-5631G>C
ENST00000700023.1:n.1755G>C
ENST00000700024.1:n.1989G>C
ENST00000700025.1:n.1366G>C
ENST00000700029.1:c.431G>C
ENST00000706954.1:c.597G>C	ENSP00000516674.1:p.Met199Ile
ENST00000706955.1:c.*632G>C	ENSP00000516675.1:n.*632G>C
ENST00000686459.1:c.*183G>C	ENSP00000508909.1:n.*183G>C
ENST00000688158.1:c.*708G>C	ENSP00000509254.1:n.*708G>C
ENST00000688308.1:c.597G>C	ENSP00000508752.1:p.Met199Ile
ENST00000688922.1:c.518G>C
ENST00000693560.1:c.1116G>C	ENSP00000509861.1:p.Met372Ile
ENST00000371953.8:c.597G>C MANE Select	ENSP00000361021.3:p.Met199Ile
ENST00000371953.7:c.597G>C	ENSP00000361021.3:p.Met199Ile
ENST00000472832.2:c.24G>C	ENSP00000483066.1:p.Met8Ile
NM_000314.5:c.597G>C	NP_000305.3:p.Met199Ile
NM_000314.6:c.597G>C	NP_000305.3:p.Met199Ile
NM_001304717.2:c.1116G>C	NP_001291646.2:p.Met372Ile
NM_001304718.1:c.6G>C	NP_001291647.1:p.Met2Ile
XM_006717926.2:c.552G>C	XP_006717989.1:p.Met184Ile
XM_011539981.1:c.597G>C	XP_011538283.1:p.Met199Ile
XM_011539982.1:c.501G>C	XP_011538284.1:p.Met167Ile
XR_945791.1:n.1205-5631G>C
NM_000314.7:c.597G>C	NP_000305.3:p.Met199Ile
NM_001304717.5:c.1116G>C	NP_001291646.4:p.Met372Ile
NM_001304718.2:c.6G>C	NP_001291647.1:p.Met2Ile
NM_000314.8:c.597G>C MANE Select	NP_000305.3:p.Met199Ile