Canonical Allele Identifier: CA930912838
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs587779993
gnomAD v3: 10-87863648-G-A
gnomAD v4: 10-87863648-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863648G>A , CM000672.2:g.87863648G>A GRCh38
NC_000010.10:g.89623405G>A , CM000672.1:g.89623405G>A GRCh37
NC_000010.9:g.89613385G>A NCBI36
NG_007466.2:g.5211G>A , LRG_311:g.5211G>A
NG_033079.1:g.4790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-822G>A (PTEN) ENSP00000514759.2:n.-822G>A
ENST00000710265.1:c.-822G>A (PTEN) ENSP00000518161.1:n.-822G>A
ENST00000706954.1:c.-16-806G>A (PTEN) ENSP00000516674.1:n.-16-806G>A
ENST00000706955.1:c.-822G>A (PTEN) ENSP00000516675.1:n.-822G>A
ENST00000688158.1:c.-822G>A (PTEN) ENSP00000509254.1:n.-822G>A
ENST00000688308.1:c.-17+535G>A (PTEN) ENSP00000508752.1:n.-17+535G>A
ENST00000692337.1:c.90G>A (MLDHR) ENSP00000509326.1:p.Gln30=
ENST00000693560.1:c.-302G>A (PTEN) ENSP00000509861.1:n.-302G>A
ENST00000371953.8:c.-822G>A (PTEN) MANE Select ENSP00000361021.3:n.-822G>A
ENST00000371953.7:c.-822G>A (PTEN) ENSP00000361021.3:n.-822G>A
ENST00000610634.1:c.-924G>A (PTEN) ENSP00000477517.1:n.-924G>A
NM_000314.5:c.-821G>A (PTEN) NP_000305.3:n.-821G>A
NM_000314.6:c.-821G>A (PTEN) NP_000305.3:n.-821G>A
NM_001304717.2:c.-302G>A (PTEN) NP_001291646.2:n.-302G>A
NM_001304718.1:c.-1526G>A (PTEN) NP_001291647.1:n.-1526G>A
NM_000314.7:c.-821G>A (PTEN) NP_000305.3:n.-821G>A
NM_001304717.5:c.-302G>A (PTEN) NP_001291646.4:n.-302G>A
NM_001304718.2:c.-1526G>A (PTEN) NP_001291647.1:n.-1526G>A
NM_000314.8:c.-822G>A (PTEN) MANE Select NP_000305.3:n.-822G>A
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