Canonical Allele Identifier: CA377485441

Gene: PTEN

Linked Data

• ClinVar Variation Id: 584754
• ClinVar RCV Id: RCV000709134
• dbSNP Id: rs1195369834
• gnomAD v2: 10-89720659-G-T
• gnomAD v3: 10-87960902-G-T
• gnomAD v4: 10-87960902-G-T
• MyVariant Identifiers: chr10:g.89720659G>T (hg19) ; chr10:g.87960902G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960902G>T , CM000672.2:g.87960902G>T	GRCh38
NC_000010.10:g.89720659G>T , CM000672.1:g.89720659G>T	GRCh37
NC_000010.9:g.89710639G>T	NCBI36
NG_007466.2:g.102464G>T , LRG_311:g.102464G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.903G>T	ENSP00000514759.2:p.Met301Ile
ENST00000710265.1:c.810G>T	ENSP00000518161.1:p.Met270Ile
ENST00000472832.3:c.810G>T	ENSP00000483066.2:p.Met270Ile
ENST00000688158.2:n.1545G>T
ENST00000688922.2:c.*640G>T	ENSP00000508742.2:n.*640G>T
ENST00000700021.1:c.765G>T	ENSP00000514757.1:p.Met255Ile
ENST00000700022.1:c.*149G>T	ENSP00000514758.1:n.*149G>T
ENST00000700023.1:n.1968G>T
ENST00000700024.1:n.2202G>T
ENST00000700025.1:n.1579G>T
ENST00000700026.1:n.447G>T
ENST00000700029.1:c.737G>T
ENST00000706954.1:c.810G>T	ENSP00000516674.1:p.Met270Ile
ENST00000706955.1:c.*845G>T	ENSP00000516675.1:n.*845G>T
ENST00000686459.1:c.*396G>T	ENSP00000508909.1:n.*396G>T
ENST00000688158.1:c.*921G>T	ENSP00000509254.1:n.*921G>T
ENST00000688308.1:c.810G>T	ENSP00000508752.1:p.Met270Ile
ENST00000688922.1:c.731G>T
ENST00000693560.1:c.1329G>T	ENSP00000509861.1:p.Met443Ile
ENST00000371953.8:c.810G>T MANE Select	ENSP00000361021.3:p.Met270Ile
ENST00000371953.7:c.810G>T	ENSP00000361021.3:p.Met270Ile
ENST00000472832.2:c.237G>T	ENSP00000483066.1:p.Met79Ile
NM_000314.5:c.810G>T	NP_000305.3:p.Met270Ile
NM_000314.6:c.810G>T	NP_000305.3:p.Met270Ile
NM_001304717.2:c.1329G>T	NP_001291646.2:p.Met443Ile
NM_001304718.1:c.219G>T	NP_001291647.1:p.Met73Ile
XM_006717926.2:c.765G>T	XP_006717989.1:p.Met255Ile
XM_011539981.1:c.810G>T	XP_011538283.1:p.Met270Ile
XM_011539982.1:c.714G>T	XP_011538284.1:p.Met238Ile
XR_945791.1:n.1380G>T
NM_000314.7:c.810G>T	NP_000305.3:p.Met270Ile
NM_001304717.5:c.1329G>T	NP_001291646.4:p.Met443Ile
NM_001304718.2:c.219G>T	NP_001291647.1:p.Met73Ile
NM_000314.8:c.810G>T MANE Select	NP_000305.3:p.Met270Ile