Canonical Allele Identifier: CA163550

Linked Data

ClinVar Variation Id: 140783
dbSNP Id: rs587779981

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863299C>A , CM000672.2:g.87863299C>A GRCh38
NC_000010.10:g.89623056C>A , CM000672.1:g.89623056C>A GRCh37
NC_000010.9:g.89613036C>A NCBI36
NG_007466.2:g.4862C>A , LRG_311:g.4862C>A
NG_033079.1:g.5139G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+657C>A (PTEN) ENSP00000516674.1:n.-17+657C>A
ENST00000688308.1:c.-17+186C>A (PTEN) ENSP00000508752.1:n.-17+186C>A
ENST00000445946.5:c.-812G>T (KLLN) MANE Select ENSP00000392204.2:n.-812G>T
ENST00000371953.7:c.-1171C>A (PTEN) ENSP00000361021.3:n.-1171C>A
ENST00000445946.3:c.-812G>T (KLLN) ENSP00000392204.2:n.-812G>T
NM_001126049.1:c.-812G>T (KLLN) NP_001119521.1:n.-812G>T
NM_001126049.2:c.-812G>T (KLLN) MANE Select NP_001119521.1:n.-812G>T