Canonical Allele Identifier: CA2610049212

Gene: PTEN

Linked Data

• gnomAD v4: 10-87965526-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965526G>A , CM000672.2:g.87965526G>A	GRCh38
NC_000010.10:g.89725283G>A , CM000672.1:g.89725283G>A	GRCh37
NC_000010.9:g.89715263G>A	NCBI36
NG_007466.2:g.107088G>A , LRG_311:g.107088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.*54G>A	ENSP00000514759.2:n.*54G>A
ENST00000710265.1:c.*295G>A	ENSP00000518161.1:n.*295G>A
ENST00000688158.2:n.2001G>A
ENST00000688922.2:c.*1096G>A	ENSP00000508742.2:n.*1096G>A
ENST00000700021.1:c.*54G>A	ENSP00000514757.1:n.*54G>A
ENST00000700022.1:c.*605G>A	ENSP00000514758.1:n.*605G>A
ENST00000700023.1:n.2424G>A
ENST00000700024.1:n.2658G>A
ENST00000706954.1:c.*54G>A	ENSP00000516674.1:n.*54G>A
ENST00000706955.1:c.*1301G>A	ENSP00000516675.1:n.*1301G>A
ENST00000686459.1:c.*852G>A	ENSP00000508909.1:n.*852G>A
ENST00000688158.1:c.*1377G>A	ENSP00000509254.1:n.*1377G>A
ENST00000688308.1:c.*54G>A	ENSP00000508752.1:n.*54G>A
ENST00000688922.1:c.1187G>A
ENST00000693560.1:c.*54G>A	ENSP00000509861.1:n.*54G>A
ENST00000371953.8:c.*54G>A MANE Select	ENSP00000361021.3:n.*54G>A
ENST00000371953.7:c.*54G>A	ENSP00000361021.3:n.*54G>A
NM_000314.5:c.*54G>A	NP_000305.3:n.*54G>A
NM_000314.6:c.*54G>A	NP_000305.3:n.*54G>A
NM_001304717.2:c.*54G>A	NP_001291646.2:n.*54G>A
NM_001304718.1:c.*54G>A	NP_001291647.1:n.*54G>A
XM_006717926.2:c.*54G>A	XP_006717989.1:n.*54G>A
XM_011539982.1:c.*54G>A	XP_011538284.1:n.*54G>A
XR_945791.1:n.1836G>A
NM_000314.7:c.*54G>A	NP_000305.3:n.*54G>A
NM_001304717.5:c.*54G>A	NP_001291646.4:n.*54G>A
NM_001304718.2:c.*54G>A	NP_001291647.1:n.*54G>A
NM_000314.8:c.*54G>A MANE Select	NP_000305.3:n.*54G>A