Canonical Allele Identifier: CA915947323
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 827509
ClinVar RCV Id: RCV001027283 RCV003226419
dbSNP Id: rs1064793784
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863649C>G , CM000672.2:g.87863649C>G GRCh38
NC_000010.10:g.89623406C>G , CM000672.1:g.89623406C>G GRCh37
NC_000010.9:g.89613386C>G NCBI36
NG_007466.2:g.5212C>G , LRG_311:g.5212C>G
NG_033079.1:g.4789G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-821C>G (PTEN) ENSP00000514759.2:n.-821C>G
ENST00000710265.1:c.-821C>G (PTEN) ENSP00000518161.1:n.-821C>G
ENST00000706954.1:c.-16-805C>G (PTEN) ENSP00000516674.1:n.-16-805C>G
ENST00000706955.1:c.-821C>G (PTEN) ENSP00000516675.1:n.-821C>G
ENST00000688158.1:c.-821C>G (PTEN) ENSP00000509254.1:n.-821C>G
ENST00000688308.1:c.-17+536C>G (PTEN) ENSP00000508752.1:n.-17+536C>G
ENST00000692337.1:c.91C>G (MLDHR) ENSP00000509326.1:p.Pro31Ala
ENST00000693560.1:c.-301C>G (PTEN) ENSP00000509861.1:n.-301C>G
ENST00000371953.8:c.-821C>G (PTEN) MANE Select ENSP00000361021.3:n.-821C>G
ENST00000371953.7:c.-821C>G (PTEN) ENSP00000361021.3:n.-821C>G
ENST00000610634.1:c.-923C>G (PTEN) ENSP00000477517.1:n.-923C>G
NM_000314.5:c.-820C>G (PTEN) NP_000305.3:n.-820C>G
NM_000314.6:c.-820C>G (PTEN) NP_000305.3:n.-820C>G
NM_001304717.2:c.-301C>G (PTEN) NP_001291646.2:n.-301C>G
NM_001304718.1:c.-1525C>G (PTEN) NP_001291647.1:n.-1525C>G
NM_000314.7:c.-820C>G (PTEN) NP_000305.3:n.-820C>G
NM_001304717.5:c.-301C>G (PTEN) NP_001291646.4:n.-301C>G
NM_001304718.2:c.-1525C>G (PTEN) NP_001291647.1:n.-1525C>G
NM_000314.8:c.-821C>G (PTEN) MANE Select NP_000305.3:n.-821C>G
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