Canonical Allele Identifier: CA595073169
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 488866
ClinVar RCV Id: RCV000579043
dbSNP Id: rs1189396936
gnomAD v2: 10-89623053-A-G
gnomAD v3: 10-87863296-A-G
gnomAD v4: 10-87863296-A-G
MyVariant Identifiers: chr10:g.89623053A>G (hg19) chr10:g.87863296A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863296A>G , CM000672.2:g.87863296A>G GRCh38
NC_000010.10:g.89623053A>G , CM000672.1:g.89623053A>G GRCh37
NC_000010.9:g.89613033A>G NCBI36
NG_007466.2:g.4859A>G , LRG_311:g.4859A>G
NG_033079.1:g.5142T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+654A>G (PTEN) ENSP00000516674.1:n.-17+654A>G
ENST00000688308.1:c.-17+183A>G (PTEN) ENSP00000508752.1:n.-17+183A>G
ENST00000445946.5:c.-809T>C (KLLN) MANE Select ENSP00000392204.2:n.-809T>C
ENST00000371953.7:c.-1174A>G (PTEN) ENSP00000361021.3:n.-1174A>G
ENST00000445946.3:c.-809T>C (KLLN) ENSP00000392204.2:n.-809T>C
NM_001126049.1:c.-809T>C (KLLN) NP_001119521.1:n.-809T>C
NM_001126049.2:c.-809T>C (KLLN) MANE Select NP_001119521.1:n.-809T>C
Search 100 bp 5'
Search 100 bp 3'