Canonical Allele Identifier: CA377485119

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1393293
• ClinVar RCV Id: RCV001912539
• dbSNP Id: rs1114167665
• COSMIC: COSM921136
• MyVariant Identifiers: chr10:g.89717778T>C (hg19) ; chr10:g.87958021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958021T>C , CM000672.2:g.87958021T>C	GRCh38
NC_000010.10:g.89717778T>C , CM000672.1:g.89717778T>C	GRCh37
NC_000010.9:g.89707758T>C	NCBI36
NG_007466.2:g.99583T>C , LRG_311:g.99583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.801+2T>C	ENSP00000514759.2:n.801+2T>C
ENST00000710265.1:c.801+2T>C	ENSP00000518161.1:n.801+2T>C
ENST00000472832.3:c.801+2T>C	ENSP00000483066.2:n.801+2T>C
ENST00000688158.2:n.1536+2T>C
ENST00000688922.2:c.*631+2T>C	ENSP00000508742.2:n.*631+2T>C
ENST00000700021.1:c.756+2T>C	ENSP00000514757.1:n.756+2T>C
ENST00000700022.1:c.*140+2T>C	ENSP00000514758.1:n.*140+2T>C
ENST00000700023.1:n.1959+2T>C
ENST00000700024.1:n.2193+2T>C
ENST00000700025.1:n.1570+2T>C
ENST00000700026.1:n.438+2T>C
ENST00000700029.1:c.635+2T>C
ENST00000706954.1:c.801+2T>C	ENSP00000516674.1:n.801+2T>C
ENST00000706955.1:c.*836+2T>C	ENSP00000516675.1:n.*836+2T>C
ENST00000686459.1:c.*387+2T>C	ENSP00000508909.1:n.*387+2T>C
ENST00000688158.1:c.*912+2T>C	ENSP00000509254.1:n.*912+2T>C
ENST00000688308.1:c.801+2T>C	ENSP00000508752.1:n.801+2T>C
ENST00000688922.1:c.722+2T>C
ENST00000693560.1:c.1320+2T>C	ENSP00000509861.1:n.1320+2T>C
ENST00000371953.8:c.801+2T>C MANE Select	ENSP00000361021.3:n.801+2T>C
ENST00000371953.7:c.801+2T>C	ENSP00000361021.3:n.801+2T>C
ENST00000472832.2:c.228+2T>C	ENSP00000483066.1:n.228+2T>C
NM_000314.5:c.801+2T>C	NP_000305.3:n.801+2T>C
NM_000314.6:c.801+2T>C	NP_000305.3:n.801+2T>C
NM_001304717.2:c.1320+2T>C	NP_001291646.2:n.1320+2T>C
NM_001304718.1:c.210+2T>C	NP_001291647.1:n.210+2T>C
XM_006717926.2:c.756+2T>C	XP_006717989.1:n.756+2T>C
XM_011539981.1:c.801+2T>C	XP_011538283.1:n.801+2T>C
XM_011539982.1:c.705+2T>C	XP_011538284.1:n.705+2T>C
XR_945791.1:n.1371+2T>C
NM_000314.7:c.801+2T>C	NP_000305.3:n.801+2T>C
NM_001304717.5:c.1320+2T>C	NP_001291646.4:n.1320+2T>C
NM_001304718.2:c.210+2T>C	NP_001291647.1:n.210+2T>C
NM_000314.8:c.801+2T>C MANE Select	NP_000305.3:n.801+2T>C