Canonical Allele Identifier: CA151479

Linked Data

ClinVar Variation Id: 127660
dbSNP Id: rs538728843

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863385C>T , CM000672.2:g.87863385C>T GRCh38
NC_000010.10:g.89623142C>T , CM000672.1:g.89623142C>T GRCh37
NC_000010.9:g.89613122C>T NCBI36
NG_007466.2:g.4948C>T , LRG_311:g.4948C>T
NG_033079.1:g.5053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+743C>T (PTEN) ENSP00000516674.1:n.-17+743C>T
ENST00000688308.1:c.-17+272C>T (PTEN) ENSP00000508752.1:n.-17+272C>T
ENST00000445946.5:c.-898G>A (KLLN) MANE Select ENSP00000392204.2:n.-898G>A
ENST00000371953.7:c.-1085C>T (PTEN) ENSP00000361021.3:n.-1085C>T
ENST00000445946.3:c.-898G>A (KLLN) ENSP00000392204.2:n.-898G>A
NM_001126049.1:c.-898G>A (KLLN) NP_001119521.1:n.-898G>A
NM_001126049.2:c.-898G>A (KLLN) MANE Select NP_001119521.1:n.-898G>A