Canonical Allele Identifier: CA1926142917
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858323479
gnomAD v4: 10-87863356-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863356T>C , CM000672.2:g.87863356T>C GRCh38
NC_000010.10:g.89623113T>C , CM000672.1:g.89623113T>C GRCh37
NC_000010.9:g.89613093T>C NCBI36
NG_007466.2:g.4919T>C , LRG_311:g.4919T>C
NG_033079.1:g.5082A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+714T>C (PTEN) ENSP00000516674.1:n.-17+714T>C
ENST00000688308.1:c.-17+243T>C (PTEN) ENSP00000508752.1:n.-17+243T>C
ENST00000445946.5:c.-869A>G (KLLN) MANE Select ENSP00000392204.2:n.-869A>G
ENST00000371953.7:c.-1114T>C (PTEN) ENSP00000361021.3:n.-1114T>C
ENST00000445946.3:c.-869A>G (KLLN) ENSP00000392204.2:n.-869A>G
NM_001126049.1:c.-869A>G (KLLN) NP_001119521.1:n.-869A>G
NM_001126049.2:c.-869A>G (KLLN) MANE Select NP_001119521.1:n.-869A>G
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