Canonical Allele Identifier: CA1926188471

Gene: PTEN

Linked Data

• dbSNP Id: rs949755790
• gnomAD v4: 10-87957799-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957799G>C , CM000672.2:g.87957799G>C	GRCh38
NC_000010.10:g.89717556G>C , CM000672.1:g.89717556G>C	GRCh37
NC_000010.9:g.89707536G>C	NCBI36
NG_007466.2:g.99361G>C , LRG_311:g.99361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.635-54G>C	ENSP00000514759.2:n.635-54G>C
ENST00000710265.1:c.635-54G>C	ENSP00000518161.1:n.635-54G>C
ENST00000472832.3:c.635-54G>C	ENSP00000483066.2:n.635-54G>C
ENST00000688158.2:n.1370-54G>C
ENST00000688922.2:c.*465-54G>C	ENSP00000508742.2:n.*465-54G>C
ENST00000700021.1:c.590-54G>C	ENSP00000514757.1:n.590-54G>C
ENST00000700022.1:c.493-54G>C	ENSP00000514758.1:n.493-54G>C
ENST00000700023.1:n.1793-54G>C
ENST00000700024.1:n.2027-54G>C
ENST00000700025.1:n.1404-54G>C
ENST00000700026.1:n.218G>C
ENST00000700029.1:c.469-54G>C
ENST00000706954.1:c.635-54G>C	ENSP00000516674.1:n.635-54G>C
ENST00000706955.1:c.*670-54G>C	ENSP00000516675.1:n.*670-54G>C
ENST00000686459.1:c.*221-54G>C	ENSP00000508909.1:n.*221-54G>C
ENST00000688158.1:c.*746-54G>C	ENSP00000509254.1:n.*746-54G>C
ENST00000688308.1:c.635-54G>C	ENSP00000508752.1:n.635-54G>C
ENST00000688922.1:c.556-54G>C
ENST00000693560.1:c.1154-54G>C	ENSP00000509861.1:n.1154-54G>C
ENST00000371953.8:c.635-54G>C MANE Select	ENSP00000361021.3:n.635-54G>C
ENST00000371953.7:c.635-54G>C	ENSP00000361021.3:n.635-54G>C
ENST00000472832.2:c.62-54G>C	ENSP00000483066.1:n.62-54G>C
NM_000314.5:c.635-54G>C	NP_000305.3:n.635-54G>C
NM_000314.6:c.635-54G>C	NP_000305.3:n.635-54G>C
NM_001304717.2:c.1154-54G>C	NP_001291646.2:n.1154-54G>C
NM_001304718.1:c.44-54G>C	NP_001291647.1:n.44-54G>C
XM_006717926.2:c.590-54G>C	XP_006717989.1:n.590-54G>C
XM_011539981.1:c.635-54G>C	XP_011538283.1:n.635-54G>C
XM_011539982.1:c.539-54G>C	XP_011538284.1:n.539-54G>C
XR_945791.1:n.1205-54G>C
NM_000314.7:c.635-54G>C	NP_000305.3:n.635-54G>C
NM_001304717.5:c.1154-54G>C	NP_001291646.4:n.1154-54G>C
NM_001304718.2:c.44-54G>C	NP_001291647.1:n.44-54G>C
NM_000314.8:c.635-54G>C MANE Select	NP_000305.3:n.635-54G>C