Canonical Allele Identifier: CA377486129

Gene: PTEN

Linked Data

• dbSNP Id: rs1860633558
• gnomAD v4: 10-87961098-T-A
• MyVariant Identifiers: chr10:g.89720855T>A (hg19) ; chr10:g.87961098T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961098T>A , CM000672.2:g.87961098T>A	GRCh38
NC_000010.10:g.89720855T>A , CM000672.1:g.89720855T>A	GRCh37
NC_000010.9:g.89710835T>A	NCBI36
NG_007466.2:g.102660T>A , LRG_311:g.102660T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1099T>A	ENSP00000514759.2:p.Tyr367Asn
ENST00000710265.1:c.1006T>A	ENSP00000518161.1:p.Tyr336Asn
ENST00000472832.3:c.1006T>A	ENSP00000483066.2:p.Tyr336Asn
ENST00000688158.2:n.1741T>A
ENST00000688922.2:c.*836T>A	ENSP00000508742.2:n.*836T>A
ENST00000700021.1:c.961T>A	ENSP00000514757.1:p.Tyr321Asn
ENST00000700022.1:c.*345T>A	ENSP00000514758.1:n.*345T>A
ENST00000700023.1:n.2164T>A
ENST00000700024.1:n.2398T>A
ENST00000700025.1:n.1775T>A
ENST00000700026.1:n.643T>A
ENST00000706954.1:c.1006T>A	ENSP00000516674.1:p.Tyr336Asn
ENST00000706955.1:c.*1041T>A	ENSP00000516675.1:n.*1041T>A
ENST00000686459.1:c.*592T>A	ENSP00000508909.1:n.*592T>A
ENST00000688158.1:c.*1117T>A	ENSP00000509254.1:n.*1117T>A
ENST00000688308.1:c.1006T>A	ENSP00000508752.1:p.Tyr336Asn
ENST00000688922.1:c.927T>A
ENST00000693560.1:c.1525T>A	ENSP00000509861.1:p.Tyr509Asn
ENST00000371953.8:c.1006T>A MANE Select	ENSP00000361021.3:p.Tyr336Asn
ENST00000371953.7:c.1006T>A	ENSP00000361021.3:p.Tyr336Asn
ENST00000472832.2:c.433T>A	ENSP00000483066.1:p.Tyr145Asn
NM_000314.5:c.1006T>A	NP_000305.3:p.Tyr336Asn
NM_000314.6:c.1006T>A	NP_000305.3:p.Tyr336Asn
NM_001304717.2:c.1525T>A	NP_001291646.2:p.Tyr509Asn
NM_001304718.1:c.415T>A	NP_001291647.1:p.Tyr139Asn
XM_006717926.2:c.961T>A	XP_006717989.1:p.Tyr321Asn
XM_011539981.1:c.1006T>A	XP_011538283.1:p.Tyr336Asn
XM_011539982.1:c.910T>A	XP_011538284.1:p.Tyr304Asn
XR_945791.1:n.1576T>A
NM_000314.7:c.1006T>A	NP_000305.3:p.Tyr336Asn
NM_001304717.5:c.1525T>A	NP_001291646.4:p.Tyr509Asn
NM_001304718.2:c.415T>A	NP_001291647.1:p.Tyr139Asn
NM_000314.8:c.1006T>A MANE Select	NP_000305.3:p.Tyr336Asn