Canonical Allele Identifier: CA287473

Linked Data

ClinVar Variation Id: 127663
dbSNP Id: rs587779982

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863279G>A , CM000672.2:g.87863279G>A GRCh38
NC_000010.10:g.89623036G>A , CM000672.1:g.89623036G>A GRCh37
NC_000010.9:g.89613016G>A NCBI36
NG_007466.2:g.4842G>A , LRG_311:g.4842G>A
NG_033079.1:g.5159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+637G>A (PTEN) ENSP00000516674.1:n.-17+637G>A
ENST00000688308.1:c.-17+166G>A (PTEN) ENSP00000508752.1:n.-17+166G>A
ENST00000445946.5:c.-792C>T (KLLN) MANE Select ENSP00000392204.2:n.-792C>T
ENST00000371953.7:c.-1191G>A (PTEN) ENSP00000361021.3:n.-1191G>A
ENST00000445946.3:c.-792C>T (KLLN) ENSP00000392204.2:n.-792C>T
NM_001126049.1:c.-792C>T (KLLN) NP_001119521.1:n.-792C>T
NM_001126049.2:c.-792C>T (KLLN) MANE Select NP_001119521.1:n.-792C>T