Canonical Allele Identifier: CA2610046217

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863454G>T , CM000672.2:g.87863454G>T GRCh38
NC_000010.10:g.89623211G>T , CM000672.1:g.89623211G>T GRCh37
NC_000010.9:g.89613191G>T NCBI36
NG_007466.2:g.5017G>T , LRG_311:g.5017G>T
NG_033079.1:g.4984C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+812G>T (PTEN) ENSP00000516674.1:n.-17+812G>T
ENST00000688308.1:c.-17+341G>T (PTEN) ENSP00000508752.1:n.-17+341G>T
ENST00000693560.1:c.-496G>T (PTEN) ENSP00000509861.1:n.-496G>T
ENST00000445946.5:c.-967C>A (KLLN) MANE Select ENSP00000392204.2:n.-967C>A
ENST00000371953.7:c.-1016G>T (PTEN) ENSP00000361021.3:n.-1016G>T
ENST00000610634.1:c.-1118G>T (PTEN) ENSP00000477517.1:n.-1118G>T
NM_000314.5:c.-1015G>T (PTEN) NP_000305.3:n.-1015G>T
NM_000314.6:c.-1015G>T (PTEN) NP_000305.3:n.-1015G>T
NM_001304717.2:c.-496G>T (PTEN) NP_001291646.2:n.-496G>T
NM_001304718.1:c.-1720G>T (PTEN) NP_001291647.1:n.-1720G>T
NM_001126049.2:c.-967C>A (KLLN) MANE Select NP_001119521.1:n.-967C>A