Canonical Allele Identifier: CA211452442
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs927485226
gnomAD v3: 10-87863468-C-A
gnomAD v4: 10-87863468-C-A
MyVariant Identifiers: chr10:g.89623225C>A (hg19) chr10:g.87863468C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863468C>A , CM000672.2:g.87863468C>A GRCh38
NC_000010.10:g.89623225C>A , CM000672.1:g.89623225C>A GRCh37
NC_000010.9:g.89613205C>A NCBI36
NG_007466.2:g.5031C>A , LRG_311:g.5031C>A
NG_033079.1:g.4970G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+826C>A (PTEN) ENSP00000516674.1:n.-17+826C>A
ENST00000688308.1:c.-17+355C>A (PTEN) ENSP00000508752.1:n.-17+355C>A
ENST00000693560.1:c.-482C>A (PTEN) ENSP00000509861.1:n.-482C>A
ENST00000445946.5:c.-981G>T (KLLN) MANE Select ENSP00000392204.2:n.-981G>T
ENST00000371953.7:c.-1002C>A (PTEN) ENSP00000361021.3:n.-1002C>A
ENST00000610634.1:c.-1104C>A (PTEN) ENSP00000477517.1:n.-1104C>A
NM_000314.5:c.-1001C>A (PTEN) NP_000305.3:n.-1001C>A
NM_000314.6:c.-1001C>A (PTEN) NP_000305.3:n.-1001C>A
NM_001304717.2:c.-482C>A (PTEN) NP_001291646.2:n.-482C>A
NM_001304718.1:c.-1706C>A (PTEN) NP_001291647.1:n.-1706C>A
NM_001126049.2:c.-981G>T (KLLN) MANE Select NP_001119521.1:n.-981G>T
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