Canonical Allele Identifier: CA000606

Gene: PTEN MLDHR

Linked Data

• ClinVar Variation Id: 127677
• ClinVar RCV Id: RCV000115572 ; RCV001854554 ; RCV003483475
• dbSNP Id: rs587779995
• gnomAD v2: 10-89623383-T-C
• gnomAD v3: 10-87863626-T-C
• gnomAD v4: 10-87863626-T-C
• MyVariant Identifiers: chr10:g.89623383T>C (hg19) ; chr10:g.87863626T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863626T>C , CM000672.2:g.87863626T>C	GRCh38
NC_000010.10:g.89623383T>C , CM000672.1:g.89623383T>C	GRCh37
NC_000010.9:g.89613363T>C	NCBI36
NG_007466.2:g.5189T>C , LRG_311:g.5189T>C
NG_033079.1:g.4812A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.-844T>C (PTEN)	ENSP00000514759.2:n.-844T>C
ENST00000710265.1:c.-844T>C (PTEN)	ENSP00000518161.1:n.-844T>C
ENST00000706954.1:c.-16-828T>C (PTEN)	ENSP00000516674.1:n.-16-828T>C
ENST00000706955.1:c.-844T>C (PTEN)	ENSP00000516675.1:n.-844T>C
ENST00000688158.1:c.-844T>C (PTEN)	ENSP00000509254.1:n.-844T>C
ENST00000688308.1:c.-17+513T>C (PTEN)	ENSP00000508752.1:n.-17+513T>C
ENST00000692337.1:c.68T>C (MLDHR)	ENSP00000509326.1:p.Val23Ala
ENST00000693560.1:c.-324T>C (PTEN)	ENSP00000509861.1:n.-324T>C
ENST00000371953.8:c.-844T>C (PTEN) MANE Select	ENSP00000361021.3:n.-844T>C
ENST00000371953.7:c.-844T>C (PTEN)	ENSP00000361021.3:n.-844T>C
ENST00000610634.1:c.-946T>C (PTEN)	ENSP00000477517.1:n.-946T>C
NM_000314.5:c.-843T>C (PTEN)	NP_000305.3:n.-843T>C
NM_000314.6:c.-843T>C (PTEN)	NP_000305.3:n.-843T>C
NM_001304717.2:c.-324T>C (PTEN)	NP_001291646.2:n.-324T>C
NM_001304718.1:c.-1548T>C (PTEN)	NP_001291647.1:n.-1548T>C
NM_000314.7:c.-843T>C (PTEN)	NP_000305.3:n.-843T>C
NM_001304717.5:c.-324T>C (PTEN)	NP_001291646.4:n.-324T>C
NM_001304718.2:c.-1548T>C (PTEN)	NP_001291647.1:n.-1548T>C
NM_000314.8:c.-844T>C (PTEN) MANE Select	NP_000305.3:n.-844T>C