Canonical Allele Identifier: CA1926143023

Linked Data

dbSNP Id: rs1589593953

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863475T>A , CM000672.2:g.87863475T>A GRCh38
NC_000010.10:g.89623232T>A , CM000672.1:g.89623232T>A GRCh37
NC_000010.9:g.89613212T>A NCBI36
NG_007466.2:g.5038T>A , LRG_311:g.5038T>A
NG_033079.1:g.4963A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+833T>A (PTEN) ENSP00000516674.1:n.-17+833T>A
ENST00000688308.1:c.-17+362T>A (PTEN) ENSP00000508752.1:n.-17+362T>A
ENST00000693560.1:c.-475T>A (PTEN) ENSP00000509861.1:n.-475T>A
ENST00000445946.5:c.-988A>T (KLLN) MANE Select ENSP00000392204.2:n.-988A>T
ENST00000371953.7:c.-995T>A (PTEN) ENSP00000361021.3:n.-995T>A
ENST00000610634.1:c.-1097T>A (PTEN) ENSP00000477517.1:n.-1097T>A
NM_000314.5:c.-994T>A (PTEN) NP_000305.3:n.-994T>A
NM_000314.6:c.-994T>A (PTEN) NP_000305.3:n.-994T>A
NM_001304717.2:c.-475T>A (PTEN) NP_001291646.2:n.-475T>A
NM_001304718.1:c.-1699T>A (PTEN) NP_001291647.1:n.-1699T>A
NM_001126049.2:c.-988A>T (KLLN) MANE Select NP_001119521.1:n.-988A>T