Canonical Allele Identifier: CA10577390

Gene: PTEN KLLN

Linked Data

• ClinVar Variation Id: 234900
• ClinVar RCV Id: RCV000218093
• dbSNP Id: rs876661284
• gnomAD v3: 10-87863325-A-C
• gnomAD v4: 10-87863325-A-C
• MyVariant Identifiers: chr10:g.89623082A>C (hg19) ; chr10:g.87863325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863325A>C , CM000672.2:g.87863325A>C	GRCh38
NC_000010.10:g.89623082A>C , CM000672.1:g.89623082A>C	GRCh37
NC_000010.9:g.89613062A>C	NCBI36
NG_007466.2:g.4888A>C , LRG_311:g.4888A>C
NG_033079.1:g.5113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+683A>C (PTEN)	ENSP00000516674.1:n.-17+683A>C
ENST00000688308.1:c.-17+212A>C (PTEN)	ENSP00000508752.1:n.-17+212A>C
ENST00000445946.5:c.-838T>G (KLLN) MANE Select	ENSP00000392204.2:n.-838T>G
ENST00000371953.7:c.-1145A>C (PTEN)	ENSP00000361021.3:n.-1145A>C
ENST00000445946.3:c.-838T>G (KLLN)	ENSP00000392204.2:n.-838T>G
NM_001126049.1:c.-838T>G (KLLN)	NP_001119521.1:n.-838T>G
NM_001126049.2:c.-838T>G (KLLN) MANE Select	NP_001119521.1:n.-838T>G