Canonical Allele Identifier: CA300594

Linked Data

ClinVar Variation Id: 189520
dbSNP Id: rs144620057

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863410C>G , CM000672.2:g.87863410C>G GRCh38
NC_000010.10:g.89623167C>G , CM000672.1:g.89623167C>G GRCh37
NC_000010.9:g.89613147C>G NCBI36
NG_007466.2:g.4973C>G , LRG_311:g.4973C>G
NG_033079.1:g.5028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+768C>G (PTEN) ENSP00000516674.1:n.-17+768C>G
ENST00000688308.1:c.-17+297C>G (PTEN) ENSP00000508752.1:n.-17+297C>G
ENST00000445946.5:c.-923G>C (KLLN) MANE Select ENSP00000392204.2:n.-923G>C
ENST00000371953.7:c.-1060C>G (PTEN) ENSP00000361021.3:n.-1060C>G
ENST00000445946.3:c.-923G>C (KLLN) ENSP00000392204.2:n.-923G>C
NM_001126049.1:c.-923G>C (KLLN) NP_001119521.1:n.-923G>C
NM_001126049.2:c.-923G>C (KLLN) MANE Select NP_001119521.1:n.-923G>C