Canonical Allele Identifier: CA2581463477
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863625G>C , CM000672.2:g.87863625G>C GRCh38
NC_000010.10:g.89623382G>C , CM000672.1:g.89623382G>C GRCh37
NC_000010.9:g.89613362G>C NCBI36
NG_007466.2:g.5188G>C , LRG_311:g.5188G>C
NG_033079.1:g.4813C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-845G>C (PTEN) ENSP00000514759.2:n.-845G>C
ENST00000710265.1:c.-845G>C (PTEN) ENSP00000518161.1:n.-845G>C
ENST00000706954.1:c.-16-829G>C (PTEN) ENSP00000516674.1:n.-16-829G>C
ENST00000706955.1:c.-845G>C (PTEN) ENSP00000516675.1:n.-845G>C
ENST00000688158.1:c.-845G>C (PTEN) ENSP00000509254.1:n.-845G>C
ENST00000688308.1:c.-17+512G>C (PTEN) ENSP00000508752.1:n.-17+512G>C
ENST00000692337.1:c.67G>C (MLDHR) ENSP00000509326.1:p.Val23Leu
ENST00000693560.1:c.-325G>C (PTEN) ENSP00000509861.1:n.-325G>C
ENST00000371953.8:c.-845G>C (PTEN) MANE Select ENSP00000361021.3:n.-845G>C
ENST00000371953.7:c.-845G>C (PTEN) ENSP00000361021.3:n.-845G>C
ENST00000610634.1:c.-947G>C (PTEN) ENSP00000477517.1:n.-947G>C
NM_000314.5:c.-844G>C (PTEN) NP_000305.3:n.-844G>C
NM_000314.6:c.-844G>C (PTEN) NP_000305.3:n.-844G>C
NM_001304717.2:c.-325G>C (PTEN) NP_001291646.2:n.-325G>C
NM_001304718.1:c.-1549G>C (PTEN) NP_001291647.1:n.-1549G>C
NM_000314.7:c.-844G>C (PTEN) NP_000305.3:n.-844G>C
NM_001304717.5:c.-325G>C (PTEN) NP_001291646.4:n.-325G>C
NM_001304718.2:c.-1549G>C (PTEN) NP_001291647.1:n.-1549G>C
NM_000314.8:c.-845G>C (PTEN) MANE Select NP_000305.3:n.-845G>C
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