Canonical Allele Identifier: CA377482268

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2687614
• ClinVar RCV Id: RCV003484363
• dbSNP Id: rs2132242979
• COSMIC: COSM5214
• MyVariant Identifiers: chr10:g.89692877G>C (hg19) ; chr10:g.87933120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933120G>C , CM000672.2:g.87933120G>C	GRCh38
NC_000010.10:g.89692877G>C , CM000672.1:g.89692877G>C	GRCh37
NC_000010.9:g.89682857G>C	NCBI36
NG_007466.2:g.74682G>C , LRG_311:g.74682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.361G>C	ENSP00000514759.2:p.Ala121Pro
ENST00000710265.1:c.361G>C	ENSP00000518161.1:p.Ala121Pro
ENST00000472832.3:c.361G>C	ENSP00000483066.2:p.Ala121Pro
ENST00000688158.2:n.1096G>C
ENST00000688922.2:c.*191G>C	ENSP00000508742.2:n.*191G>C
ENST00000700021.1:c.316G>C	ENSP00000514757.1:p.Ala106Pro
ENST00000700022.1:c.361G>C	ENSP00000514758.1:p.Ala121Pro
ENST00000700029.1:c.195G>C
ENST00000706954.1:c.361G>C	ENSP00000516674.1:p.Ala121Pro
ENST00000706955.1:c.*396G>C	ENSP00000516675.1:n.*396G>C
ENST00000686459.1:c.361G>C	ENSP00000508909.1:p.Ala121Pro
ENST00000688158.1:c.*472G>C	ENSP00000509254.1:n.*472G>C
ENST00000688308.1:c.361G>C	ENSP00000508752.1:p.Ala121Pro
ENST00000688922.1:c.282G>C
ENST00000693560.1:c.880G>C	ENSP00000509861.1:p.Ala294Pro
ENST00000371953.8:c.361G>C MANE Select	ENSP00000361021.3:p.Ala121Pro
ENST00000371953.7:c.361G>C	ENSP00000361021.3:p.Ala121Pro
ENST00000498703.1:n.187G>C
ENST00000610634.1:c.259G>C	ENSP00000477517.1:p.Ala87Pro
NM_000314.5:c.361G>C	NP_000305.3:p.Ala121Pro
NM_000314.6:c.361G>C	NP_000305.3:p.Ala121Pro
NM_001304717.2:c.880G>C	NP_001291646.2:p.Ala294Pro
NM_001304718.1:c.-390G>C	NP_001291647.1:n.-390G>C
XM_006717926.2:c.316G>C	XP_006717989.1:p.Ala106Pro
XM_011539981.1:c.361G>C	XP_011538283.1:p.Ala121Pro
XM_011539982.1:c.265G>C	XP_011538284.1:p.Ala89Pro
XR_945789.1:n.1073G>C
XR_945790.1:n.1073G>C
XR_945791.1:n.1073G>C
NM_000314.7:c.361G>C	NP_000305.3:p.Ala121Pro
NM_001304717.5:c.880G>C	NP_001291646.4:p.Ala294Pro
NM_001304718.2:c.-390G>C	NP_001291647.1:n.-390G>C
NM_000314.8:c.361G>C MANE Select	NP_000305.3:p.Ala121Pro