Canonical Allele Identifier: CA595073167

Gene: PTEN KLLN

Linked Data

• dbSNP Id: rs1367012174
• gnomAD v2: 10-89622972-C-A
• gnomAD v3: 10-87863215-C-A
• gnomAD v4: 10-87863215-C-A
• MyVariant Identifiers: chr10:g.89622972C>A (hg19) ; chr10:g.87863215C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863215C>A , CM000672.2:g.87863215C>A	GRCh38
NC_000010.10:g.89622972C>A , CM000672.1:g.89622972C>A	GRCh37
NC_000010.9:g.89612952C>A	NCBI36
NG_007466.2:g.4778C>A , LRG_311:g.4778C>A
NG_033079.1:g.5223G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+573C>A (PTEN)	ENSP00000516674.1:n.-17+573C>A
ENST00000688308.1:c.-17+102C>A (PTEN)	ENSP00000508752.1:n.-17+102C>A
ENST00000445946.5:c.-728G>T (KLLN) MANE Select	ENSP00000392204.2:n.-728G>T
ENST00000371953.7:c.-1255C>A (PTEN)	ENSP00000361021.3:n.-1255C>A
ENST00000445946.3:c.-728G>T (KLLN)	ENSP00000392204.2:n.-728G>T
NM_001126049.1:c.-728G>T (KLLN)	NP_001119521.1:n.-728G>T
NM_001126049.2:c.-728G>T (KLLN) MANE Select	NP_001119521.1:n.-728G>T