Canonical Allele Identifier: CA658683609

Linked Data

ClinVar Variation Id: 488885
ClinVar RCV Id: RCV000579103
dbSNP Id: rs1554889858

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863369T>G , CM000672.2:g.87863369T>G GRCh38
NC_000010.10:g.89623126T>G , CM000672.1:g.89623126T>G GRCh37
NC_000010.9:g.89613106T>G NCBI36
NG_007466.2:g.4932T>G , LRG_311:g.4932T>G
NG_033079.1:g.5069A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+727T>G (PTEN) ENSP00000516674.1:n.-17+727T>G
ENST00000688308.1:c.-17+256T>G (PTEN) ENSP00000508752.1:n.-17+256T>G
ENST00000445946.5:c.-882A>C (KLLN) MANE Select ENSP00000392204.2:n.-882A>C
ENST00000371953.7:c.-1101T>G (PTEN) ENSP00000361021.3:n.-1101T>G
ENST00000445946.3:c.-882A>C (KLLN) ENSP00000392204.2:n.-882A>C
NM_001126049.1:c.-882A>C (KLLN) NP_001119521.1:n.-882A>C
NM_001126049.2:c.-882A>C (KLLN) MANE Select NP_001119521.1:n.-882A>C