Canonical Allele Identifier: CA287476
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 127667
ClinVar RCV Id: RCV000710312 RCV000759330
dbSNP Id: rs70937047
gnomAD v2: 10-89622915-T-C
gnomAD v3: 10-87863158-T-C
gnomAD v4: 10-87863158-T-C
MyVariant Identifiers: chr10:g.89622915T>C (hg19) chr10:g.87863158T>C (hg38)
ERepo: CA287476/MONDO:0017623/003
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863158T>C , CM000672.2:g.87863158T>C GRCh38
NC_000010.10:g.89622915T>C , CM000672.1:g.89622915T>C GRCh37
NC_000010.9:g.89612895T>C NCBI36
NG_007466.2:g.4721T>C , LRG_311:g.4721T>C
NG_033079.1:g.5280A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+516T>C (PTEN) ENSP00000516674.1:n.-17+516T>C
ENST00000688308.1:c.-17+45T>C (PTEN) ENSP00000508752.1:n.-17+45T>C
ENST00000445946.5:c.-671A>G (KLLN) MANE Select ENSP00000392204.2:n.-671A>G
ENST00000371953.7:c.-1312T>C (PTEN) ENSP00000361021.3:n.-1312T>C
ENST00000445946.3:c.-671A>G (KLLN) ENSP00000392204.2:n.-671A>G
NM_001126049.1:c.-671A>G (KLLN) NP_001119521.1:n.-671A>G
NM_001126049.2:c.-671A>G (KLLN) MANE Select NP_001119521.1:n.-671A>G
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