Canonical Allele Identifier: CA377484773

Gene: PTEN

Linked Data

• MyVariant Identifiers: chr10:g.89717620T>A (hg19) ; chr10:g.87957863T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957863T>A , CM000672.2:g.87957863T>A	GRCh38
NC_000010.10:g.89717620T>A , CM000672.1:g.89717620T>A	GRCh37
NC_000010.9:g.89707600T>A	NCBI36
NG_007466.2:g.99425T>A , LRG_311:g.99425T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.645T>A	ENSP00000514759.2:p.Phe215Leu
ENST00000710265.1:c.645T>A	ENSP00000518161.1:p.Phe215Leu
ENST00000472832.3:c.645T>A	ENSP00000483066.2:p.Phe215Leu
ENST00000688158.2:n.1380T>A
ENST00000688922.2:c.*475T>A	ENSP00000508742.2:n.*475T>A
ENST00000700021.1:c.600T>A	ENSP00000514757.1:p.Phe200Leu
ENST00000700022.1:c.503T>A	ENSP00000514758.1:p.Leu168Ter
ENST00000700023.1:n.1803T>A
ENST00000700024.1:n.2037T>A
ENST00000700025.1:n.1414T>A
ENST00000700026.1:n.282T>A
ENST00000700029.1:c.479T>A
ENST00000706954.1:c.645T>A	ENSP00000516674.1:p.Phe215Leu
ENST00000706955.1:c.*680T>A	ENSP00000516675.1:n.*680T>A
ENST00000686459.1:c.*231T>A	ENSP00000508909.1:n.*231T>A
ENST00000688158.1:c.*756T>A	ENSP00000509254.1:n.*756T>A
ENST00000688308.1:c.645T>A	ENSP00000508752.1:p.Phe215Leu
ENST00000688922.1:c.566T>A
ENST00000693560.1:c.1164T>A	ENSP00000509861.1:p.Phe388Leu
ENST00000371953.8:c.645T>A MANE Select	ENSP00000361021.3:p.Phe215Leu
ENST00000371953.7:c.645T>A	ENSP00000361021.3:p.Phe215Leu
ENST00000472832.2:c.72T>A	ENSP00000483066.1:p.Phe24Leu
NM_000314.5:c.645T>A	NP_000305.3:p.Phe215Leu
NM_000314.6:c.645T>A	NP_000305.3:p.Phe215Leu
NM_001304717.2:c.1164T>A	NP_001291646.2:p.Phe388Leu
NM_001304718.1:c.54T>A	NP_001291647.1:p.Phe18Leu
XM_006717926.2:c.600T>A	XP_006717989.1:p.Phe200Leu
XM_011539981.1:c.645T>A	XP_011538283.1:p.Phe215Leu
XM_011539982.1:c.549T>A	XP_011538284.1:p.Phe183Leu
XR_945791.1:n.1215T>A
NM_000314.7:c.645T>A	NP_000305.3:p.Phe215Leu
NM_001304717.5:c.1164T>A	NP_001291646.4:p.Phe388Leu
NM_001304718.2:c.54T>A	NP_001291647.1:p.Phe18Leu
NM_000314.8:c.645T>A MANE Select	NP_000305.3:p.Phe215Leu