Canonical Allele Identifier: CA2610046227

Gene: PTEN KLLN

Linked Data

• gnomAD v4: 10-87863461-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863461C>T , CM000672.2:g.87863461C>T	GRCh38
NC_000010.10:g.89623218C>T , CM000672.1:g.89623218C>T	GRCh37
NC_000010.9:g.89613198C>T	NCBI36
NG_007466.2:g.5024C>T , LRG_311:g.5024C>T
NG_033079.1:g.4977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+819C>T (PTEN)	ENSP00000516674.1:n.-17+819C>T
ENST00000688308.1:c.-17+348C>T (PTEN)	ENSP00000508752.1:n.-17+348C>T
ENST00000693560.1:c.-489C>T (PTEN)	ENSP00000509861.1:n.-489C>T
ENST00000445946.5:c.-974G>A (KLLN) MANE Select	ENSP00000392204.2:n.-974G>A
ENST00000371953.7:c.-1009C>T (PTEN)	ENSP00000361021.3:n.-1009C>T
ENST00000610634.1:c.-1111C>T (PTEN)	ENSP00000477517.1:n.-1111C>T
NM_000314.5:c.-1008C>T (PTEN)	NP_000305.3:n.-1008C>T
NM_000314.6:c.-1008C>T (PTEN)	NP_000305.3:n.-1008C>T
NM_001304717.2:c.-489C>T (PTEN)	NP_001291646.2:n.-489C>T
NM_001304718.1:c.-1713C>T (PTEN)	NP_001291647.1:n.-1713C>T
NM_001126049.2:c.-974G>A (KLLN) MANE Select	NP_001119521.1:n.-974G>A