Canonical Allele Identifier: CA1926143190
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1858343261
gnomAD v4: 10-87863653-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863653G>T , CM000672.2:g.87863653G>T GRCh38
NC_000010.10:g.89623410G>T , CM000672.1:g.89623410G>T GRCh37
NC_000010.9:g.89613390G>T NCBI36
NG_007466.2:g.5216G>T , LRG_311:g.5216G>T
NG_033079.1:g.4785C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-817G>T (PTEN) ENSP00000514759.2:n.-817G>T
ENST00000710265.1:c.-817G>T (PTEN) ENSP00000518161.1:n.-817G>T
ENST00000706954.1:c.-16-801G>T (PTEN) ENSP00000516674.1:n.-16-801G>T
ENST00000706955.1:c.-817G>T (PTEN) ENSP00000516675.1:n.-817G>T
ENST00000688158.1:c.-817G>T (PTEN) ENSP00000509254.1:n.-817G>T
ENST00000688308.1:c.-17+540G>T (PTEN) ENSP00000508752.1:n.-17+540G>T
ENST00000692337.1:c.95G>T (MLDHR) ENSP00000509326.1:p.Ter32Leu
ENST00000693560.1:c.-297G>T (PTEN) ENSP00000509861.1:n.-297G>T
ENST00000371953.8:c.-817G>T (PTEN) MANE Select ENSP00000361021.3:n.-817G>T
ENST00000371953.7:c.-817G>T (PTEN) ENSP00000361021.3:n.-817G>T
ENST00000610634.1:c.-919G>T (PTEN) ENSP00000477517.1:n.-919G>T
NM_000314.5:c.-816G>T (PTEN) NP_000305.3:n.-816G>T
NM_000314.6:c.-816G>T (PTEN) NP_000305.3:n.-816G>T
NM_001304717.2:c.-297G>T (PTEN) NP_001291646.2:n.-297G>T
NM_001304718.1:c.-1521G>T (PTEN) NP_001291647.1:n.-1521G>T
NM_000314.7:c.-816G>T (PTEN) NP_000305.3:n.-816G>T
NM_001304717.5:c.-297G>T (PTEN) NP_001291646.4:n.-297G>T
NM_001304718.2:c.-1521G>T (PTEN) NP_001291647.1:n.-1521G>T
NM_000314.8:c.-817G>T (PTEN) MANE Select NP_000305.3:n.-817G>T
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