Canonical Allele Identifier: CA000654

Linked Data

ClinVar Variation Id: 127685
dbSNP Id: rs587780001

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863494G>C , CM000672.2:g.87863494G>C GRCh38
NC_000010.10:g.89623251G>C , CM000672.1:g.89623251G>C GRCh37
NC_000010.9:g.89613231G>C NCBI36
NG_007466.2:g.5057G>C , LRG_311:g.5057G>C
NG_033079.1:g.4944C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+852G>C (PTEN) ENSP00000516674.1:n.-17+852G>C
ENST00000688308.1:c.-17+381G>C (PTEN) ENSP00000508752.1:n.-17+381G>C
ENST00000693560.1:c.-456G>C (PTEN) ENSP00000509861.1:n.-456G>C
ENST00000445946.5:c.-1007C>G (KLLN) MANE Select ENSP00000392204.2:n.-1007C>G
ENST00000371953.7:c.-976G>C (PTEN) ENSP00000361021.3:n.-976G>C
ENST00000610634.1:c.-1078G>C (PTEN) ENSP00000477517.1:n.-1078G>C
NM_000314.5:c.-975G>C (PTEN) NP_000305.3:n.-975G>C
NM_000314.6:c.-975G>C (PTEN) NP_000305.3:n.-975G>C
NM_001304717.2:c.-456G>C (PTEN) NP_001291646.2:n.-456G>C
NM_001304718.1:c.-1680G>C (PTEN) NP_001291647.1:n.-1680G>C
NM_001126049.2:c.-1007C>G (KLLN) MANE Select NP_001119521.1:n.-1007C>G