Canonical Allele Identifier: CA669539968
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1368036680
gnomAD v3: 10-87863043-G-C
gnomAD v4: 10-87863043-G-C
MyVariant Identifiers: chr10:g.89622800G>C (hg19) chr10:g.87863043G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863043G>C , CM000672.2:g.87863043G>C GRCh38
NC_000010.10:g.89622800G>C , CM000672.1:g.89622800G>C GRCh37
NC_000010.9:g.89612780G>C NCBI36
NG_007466.2:g.4606G>C , LRG_311:g.4606G>C
NG_033079.1:g.5395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+401G>C (PTEN) ENSP00000516674.1:n.-17+401G>C
ENST00000688308.1:c.-87G>C (PTEN) ENSP00000508752.1:n.-87G>C
ENST00000445946.5:c.-556C>G (KLLN) MANE Select ENSP00000392204.2:n.-556C>G
ENST00000445946.3:c.-556C>G (KLLN) ENSP00000392204.2:n.-556C>G
NM_001126049.1:c.-556C>G (KLLN) NP_001119521.1:n.-556C>G
NM_001126049.2:c.-556C>G (KLLN) MANE Select NP_001119521.1:n.-556C>G
Search 100 bp 5'
Search 100 bp 3'