Canonical Allele Identifier: CA377487180

Gene: PTEN

Linked Data

• ClinVar Variation Id: 569595
• ClinVar RCV Id: RCV000690266 ; RCV003278998
• dbSNP Id: rs1564570356
• gnomAD v4: 10-87965328-T-A
• MyVariant Identifiers: chr10:g.89725085T>A (hg19) ; chr10:g.87965328T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965328T>A , CM000672.2:g.87965328T>A	GRCh38
NC_000010.10:g.89725085T>A , CM000672.1:g.89725085T>A	GRCh37
NC_000010.9:g.89715065T>A	NCBI36
NG_007466.2:g.106890T>A , LRG_311:g.106890T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1161T>A	ENSP00000514759.2:p.Asn387Lys
ENST00000710265.1:c.*97T>A	ENSP00000518161.1:n.*97T>A
ENST00000688158.2:n.1803T>A
ENST00000688922.2:c.*898T>A	ENSP00000508742.2:n.*898T>A
ENST00000700021.1:c.1023T>A	ENSP00000514757.1:p.Asn341Lys
ENST00000700022.1:c.*407T>A	ENSP00000514758.1:n.*407T>A
ENST00000700023.1:n.2226T>A
ENST00000700024.1:n.2460T>A
ENST00000706954.1:c.1068T>A	ENSP00000516674.1:p.Asn356Lys
ENST00000706955.1:c.*1103T>A	ENSP00000516675.1:n.*1103T>A
ENST00000686459.1:c.*654T>A	ENSP00000508909.1:n.*654T>A
ENST00000688158.1:c.*1179T>A	ENSP00000509254.1:n.*1179T>A
ENST00000688308.1:c.1068T>A	ENSP00000508752.1:p.Asn356Lys
ENST00000688922.1:c.989T>A
ENST00000693560.1:c.1587T>A	ENSP00000509861.1:p.Asn529Lys
ENST00000371953.8:c.1068T>A MANE Select	ENSP00000361021.3:p.Asn356Lys
ENST00000371953.7:c.1068T>A	ENSP00000361021.3:p.Asn356Lys
NM_000314.5:c.1068T>A	NP_000305.3:p.Asn356Lys
NM_000314.6:c.1068T>A	NP_000305.3:p.Asn356Lys
NM_001304717.2:c.1587T>A	NP_001291646.2:p.Asn529Lys
NM_001304718.1:c.477T>A	NP_001291647.1:p.Asn159Lys
XM_006717926.2:c.1023T>A	XP_006717989.1:p.Asn341Lys
XM_011539982.1:c.972T>A	XP_011538284.1:p.Asn324Lys
XR_945791.1:n.1638T>A
NM_000314.7:c.1068T>A	NP_000305.3:p.Asn356Lys
NM_001304717.5:c.1587T>A	NP_001291646.4:p.Asn529Lys
NM_001304718.2:c.477T>A	NP_001291647.1:p.Asn159Lys
NM_000314.8:c.1068T>A MANE Select	NP_000305.3:p.Asn356Lys