Canonical Allele Identifier: CA930912521

Gene: PTEN KLLN

Linked Data

• dbSNP Id: rs1858328608
• gnomAD v3: 10-87863446-C-A
• gnomAD v4: 10-87863446-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863446C>A , CM000672.2:g.87863446C>A	GRCh38
NC_000010.10:g.89623203C>A , CM000672.1:g.89623203C>A	GRCh37
NC_000010.9:g.89613183C>A	NCBI36
NG_007466.2:g.5009C>A , LRG_311:g.5009C>A
NG_033079.1:g.4992G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706954.1:c.-17+804C>A (PTEN)	ENSP00000516674.1:n.-17+804C>A
ENST00000688308.1:c.-17+333C>A (PTEN)	ENSP00000508752.1:n.-17+333C>A
ENST00000693560.1:c.-504C>A (PTEN)	ENSP00000509861.1:n.-504C>A
ENST00000445946.5:c.-959G>T (KLLN) MANE Select	ENSP00000392204.2:n.-959G>T
ENST00000371953.7:c.-1024C>A (PTEN)	ENSP00000361021.3:n.-1024C>A
ENST00000610634.1:c.-1126C>A (PTEN)	ENSP00000477517.1:n.-1126C>A
NM_000314.5:c.-1023C>A (PTEN)	NP_000305.3:n.-1023C>A
NM_000314.6:c.-1023C>A (PTEN)	NP_000305.3:n.-1023C>A
NM_001304717.2:c.-504C>A (PTEN)	NP_001291646.2:n.-504C>A
NM_001304718.1:c.-1728C>A (PTEN)	NP_001291647.1:n.-1728C>A
NM_001126049.2:c.-959G>T (KLLN) MANE Select	NP_001119521.1:n.-959G>T