Canonical Allele Identifier: CA13365837

Linked Data

ClinVar Variation Id: 503509
ClinVar RCV Id: RCV000596526
dbSNP Id: rs1554889842

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863339A>T , CM000672.2:g.87863339A>T GRCh38
NC_000010.10:g.89623096A>T , CM000672.1:g.89623096A>T GRCh37
NC_000010.9:g.89613076A>T NCBI36
NG_007466.2:g.4902A>T , LRG_311:g.4902A>T
NG_033079.1:g.5099T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+697A>T (PTEN) ENSP00000516674.1:n.-17+697A>T
ENST00000688308.1:c.-17+226A>T (PTEN) ENSP00000508752.1:n.-17+226A>T
ENST00000445946.5:c.-852T>A (KLLN) MANE Select ENSP00000392204.2:n.-852T>A
ENST00000371953.7:c.-1131A>T (PTEN) ENSP00000361021.3:n.-1131A>T
ENST00000445946.3:c.-852T>A (KLLN) ENSP00000392204.2:n.-852T>A
NM_001126049.1:c.-852T>A (KLLN) NP_001119521.1:n.-852T>A
NM_001126049.2:c.-852T>A (KLLN) MANE Select NP_001119521.1:n.-852T>A