Canonical Allele Identifier: CA595073329

Gene: PTEN MLDHR

Linked Data

• dbSNP Id: rs1403150766
• gnomAD v2: 10-89623388-T-C
• gnomAD v3: 10-87863631-T-C
• gnomAD v4: 10-87863631-T-C
• MyVariant Identifiers: chr10:g.89623388T>C (hg19) ; chr10:g.87863631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863631T>C , CM000672.2:g.87863631T>C	GRCh38
NC_000010.10:g.89623388T>C , CM000672.1:g.89623388T>C	GRCh37
NC_000010.9:g.89613368T>C	NCBI36
NG_007466.2:g.5194T>C , LRG_311:g.5194T>C
NG_033079.1:g.4807A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.-839T>C (PTEN)	ENSP00000514759.2:n.-839T>C
ENST00000710265.1:c.-839T>C (PTEN)	ENSP00000518161.1:n.-839T>C
ENST00000706954.1:c.-16-823T>C (PTEN)	ENSP00000516674.1:n.-16-823T>C
ENST00000706955.1:c.-839T>C (PTEN)	ENSP00000516675.1:n.-839T>C
ENST00000688158.1:c.-839T>C (PTEN)	ENSP00000509254.1:n.-839T>C
ENST00000688308.1:c.-17+518T>C (PTEN)	ENSP00000508752.1:n.-17+518T>C
ENST00000692337.1:c.73T>C (MLDHR)	ENSP00000509326.1:p.Ser25Pro
ENST00000693560.1:c.-319T>C (PTEN)	ENSP00000509861.1:n.-319T>C
ENST00000371953.8:c.-839T>C (PTEN) MANE Select	ENSP00000361021.3:n.-839T>C
ENST00000371953.7:c.-839T>C (PTEN)	ENSP00000361021.3:n.-839T>C
ENST00000610634.1:c.-941T>C (PTEN)	ENSP00000477517.1:n.-941T>C
NM_000314.5:c.-838T>C (PTEN)	NP_000305.3:n.-838T>C
NM_000314.6:c.-838T>C (PTEN)	NP_000305.3:n.-838T>C
NM_001304717.2:c.-319T>C (PTEN)	NP_001291646.2:n.-319T>C
NM_001304718.1:c.-1543T>C (PTEN)	NP_001291647.1:n.-1543T>C
NM_000314.7:c.-838T>C (PTEN)	NP_000305.3:n.-838T>C
NM_001304717.5:c.-319T>C (PTEN)	NP_001291646.4:n.-319T>C
NM_001304718.2:c.-1543T>C (PTEN)	NP_001291647.1:n.-1543T>C
NM_000314.8:c.-839T>C (PTEN) MANE Select	NP_000305.3:n.-839T>C