Canonical Allele Identifier: CA2610045430

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863081C>A , CM000672.2:g.87863081C>A GRCh38
NC_000010.10:g.89622838C>A , CM000672.1:g.89622838C>A GRCh37
NC_000010.9:g.89612818C>A NCBI36
NG_007466.2:g.4644C>A , LRG_311:g.4644C>A
NG_033079.1:g.5357G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+439C>A (PTEN) ENSP00000516674.1:n.-17+439C>A
ENST00000688308.1:c.-49C>A (PTEN) ENSP00000508752.1:n.-49C>A
ENST00000445946.5:c.-594G>T (KLLN) MANE Select ENSP00000392204.2:n.-594G>T
ENST00000445946.3:c.-594G>T (KLLN) ENSP00000392204.2:n.-594G>T
NM_001126049.1:c.-594G>T (KLLN) NP_001119521.1:n.-594G>T
NM_001126049.2:c.-594G>T (KLLN) MANE Select NP_001119521.1:n.-594G>T