Canonical Allele Identifier: CA2610048248

Gene: PTEN

Linked Data

• gnomAD v4: 10-87952317-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952317T>C , CM000672.2:g.87952317T>C	GRCh38
NC_000010.10:g.89712074T>C , CM000672.1:g.89712074T>C	GRCh37
NC_000010.9:g.89702054T>C	NCBI36
NG_007466.2:g.93879T>C , LRG_311:g.93879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.634+58T>C	ENSP00000514759.2:n.634+58T>C
ENST00000710265.1:c.634+58T>C	ENSP00000518161.1:n.634+58T>C
ENST00000472832.3:c.634+58T>C	ENSP00000483066.2:n.634+58T>C
ENST00000688158.2:n.1369+58T>C
ENST00000688922.2:c.*464+58T>C	ENSP00000508742.2:n.*464+58T>C
ENST00000700021.1:c.589+58T>C	ENSP00000514757.1:n.589+58T>C
ENST00000700022.1:c.493-5536T>C	ENSP00000514758.1:n.493-5536T>C
ENST00000700023.1:n.1792+58T>C
ENST00000700024.1:n.2026+58T>C
ENST00000700025.1:n.1403+58T>C
ENST00000700029.1:c.468+58T>C
ENST00000706954.1:c.634+58T>C	ENSP00000516674.1:n.634+58T>C
ENST00000706955.1:c.*669+58T>C	ENSP00000516675.1:n.*669+58T>C
ENST00000686459.1:c.*220+58T>C	ENSP00000508909.1:n.*220+58T>C
ENST00000688158.1:c.*745+58T>C	ENSP00000509254.1:n.*745+58T>C
ENST00000688308.1:c.634+58T>C	ENSP00000508752.1:n.634+58T>C
ENST00000688922.1:c.555+58T>C
ENST00000693560.1:c.1153+58T>C	ENSP00000509861.1:n.1153+58T>C
ENST00000371953.8:c.634+58T>C MANE Select	ENSP00000361021.3:n.634+58T>C
ENST00000371953.7:c.634+58T>C	ENSP00000361021.3:n.634+58T>C
ENST00000472832.2:c.61+58T>C	ENSP00000483066.1:n.61+58T>C
NM_000314.5:c.634+58T>C	NP_000305.3:n.634+58T>C
NM_000314.6:c.634+58T>C	NP_000305.3:n.634+58T>C
NM_001304717.2:c.1153+58T>C	NP_001291646.2:n.1153+58T>C
NM_001304718.1:c.43+58T>C	NP_001291647.1:n.43+58T>C
XM_006717926.2:c.589+58T>C	XP_006717989.1:n.589+58T>C
XM_011539981.1:c.634+58T>C	XP_011538283.1:n.634+58T>C
XM_011539982.1:c.538+58T>C	XP_011538284.1:n.538+58T>C
XR_945791.1:n.1205-5536T>C
NM_000314.7:c.634+58T>C	NP_000305.3:n.634+58T>C
NM_001304717.5:c.1153+58T>C	NP_001291646.4:n.1153+58T>C
NM_001304718.2:c.43+58T>C	NP_001291647.1:n.43+58T>C
NM_000314.8:c.634+58T>C MANE Select	NP_000305.3:n.634+58T>C