Canonical Allele Identifier: CA377484790

Gene: PTEN

Linked Data

• ClinVar Variation Id: 945328
• ClinVar RCV Id: RCV001215947 ; RCV003163658
• dbSNP Id: rs1860540059
• gnomAD v4: 10-87957871-G-A
• MyVariant Identifiers: chr10:g.89717628G>A (hg19) ; chr10:g.87957871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957871G>A , CM000672.2:g.87957871G>A	GRCh38
NC_000010.10:g.89717628G>A , CM000672.1:g.89717628G>A	GRCh37
NC_000010.9:g.89707608G>A	NCBI36
NG_007466.2:g.99433G>A , LRG_311:g.99433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.653G>A	ENSP00000514759.2:p.Cys218Tyr
ENST00000710265.1:c.653G>A	ENSP00000518161.1:p.Cys218Tyr
ENST00000472832.3:c.653G>A	ENSP00000483066.2:p.Cys218Tyr
ENST00000688158.2:n.1388G>A
ENST00000688922.2:c.*483G>A	ENSP00000508742.2:n.*483G>A
ENST00000700021.1:c.608G>A	ENSP00000514757.1:p.Cys203Tyr
ENST00000700022.1:c.511G>A	ENSP00000514758.1:p.Ala171Thr
ENST00000700023.1:n.1811G>A
ENST00000700024.1:n.2045G>A
ENST00000700025.1:n.1422G>A
ENST00000700026.1:n.290G>A
ENST00000700029.1:c.487G>A
ENST00000706954.1:c.653G>A	ENSP00000516674.1:p.Cys218Tyr
ENST00000706955.1:c.*688G>A	ENSP00000516675.1:n.*688G>A
ENST00000686459.1:c.*239G>A	ENSP00000508909.1:n.*239G>A
ENST00000688158.1:c.*764G>A	ENSP00000509254.1:n.*764G>A
ENST00000688308.1:c.653G>A	ENSP00000508752.1:p.Cys218Tyr
ENST00000688922.1:c.574G>A
ENST00000693560.1:c.1172G>A	ENSP00000509861.1:p.Cys391Tyr
ENST00000371953.8:c.653G>A MANE Select	ENSP00000361021.3:p.Cys218Tyr
ENST00000371953.7:c.653G>A	ENSP00000361021.3:p.Cys218Tyr
ENST00000472832.2:c.80G>A	ENSP00000483066.1:p.Cys27Tyr
NM_000314.5:c.653G>A	NP_000305.3:p.Cys218Tyr
NM_000314.6:c.653G>A	NP_000305.3:p.Cys218Tyr
NM_001304717.2:c.1172G>A	NP_001291646.2:p.Cys391Tyr
NM_001304718.1:c.62G>A	NP_001291647.1:p.Cys21Tyr
XM_006717926.2:c.608G>A	XP_006717989.1:p.Cys203Tyr
XM_011539981.1:c.653G>A	XP_011538283.1:p.Cys218Tyr
XM_011539982.1:c.557G>A	XP_011538284.1:p.Cys186Tyr
XR_945791.1:n.1223G>A
NM_000314.7:c.653G>A	NP_000305.3:p.Cys218Tyr
NM_001304717.5:c.1172G>A	NP_001291646.4:p.Cys391Tyr
NM_001304718.2:c.62G>A	NP_001291647.1:p.Cys21Tyr
NM_000314.8:c.653G>A MANE Select	NP_000305.3:p.Cys218Tyr