Canonical Allele Identifier: CA2582342718

Linked Data

ClinVar Variation Id: 2581703
ClinVar RCV Id: RCV003330479

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863527G>T , CM000672.2:g.87863527G>T GRCh38
NC_000010.10:g.89623284G>T , CM000672.1:g.89623284G>T GRCh37
NC_000010.9:g.89613264G>T NCBI36
NG_007466.2:g.5090G>T , LRG_311:g.5090G>T
NG_033079.1:g.4911C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+885G>T (PTEN) ENSP00000516674.1:n.-17+885G>T
ENST00000688308.1:c.-17+414G>T (PTEN) ENSP00000508752.1:n.-17+414G>T
ENST00000693560.1:c.-423G>T (PTEN) ENSP00000509861.1:n.-423G>T
ENST00000445946.5:c.-1040C>A (KLLN) MANE Select ENSP00000392204.2:n.-1040C>A
ENST00000371953.7:c.-943G>T (PTEN) ENSP00000361021.3:n.-943G>T
ENST00000610634.1:c.-1045G>T (PTEN) ENSP00000477517.1:n.-1045G>T
NM_000314.5:c.-942G>T (PTEN) NP_000305.3:n.-942G>T
NM_000314.6:c.-942G>T (PTEN) NP_000305.3:n.-942G>T
NM_001304717.2:c.-423G>T (PTEN) NP_001291646.2:n.-423G>T
NM_001304718.1:c.-1647G>T (PTEN) NP_001291647.1:n.-1647G>T
NM_001126049.2:c.-1040C>A (KLLN) MANE Select NP_001119521.1:n.-1040C>A