Canonical Allele Identifier: CA377487209

Gene: PTEN

Linked Data

• ClinVar Variation Id: 3231144
• ClinVar RCV Id: RCV004525215
• dbSNP Id: rs1283349882
• gnomAD v4: 10-87965342-G-C
• MyVariant Identifiers: chr10:g.89725099G>C (hg19) ; chr10:g.87965342G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965342G>C , CM000672.2:g.87965342G>C	GRCh38
NC_000010.10:g.89725099G>C , CM000672.1:g.89725099G>C	GRCh37
NC_000010.9:g.89715079G>C	NCBI36
NG_007466.2:g.106904G>C , LRG_311:g.106904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1175G>C	ENSP00000514759.2:p.Ser392Thr
ENST00000710265.1:c.*111G>C	ENSP00000518161.1:n.*111G>C
ENST00000688158.2:n.1817G>C
ENST00000688922.2:c.*912G>C	ENSP00000508742.2:n.*912G>C
ENST00000700021.1:c.1037G>C	ENSP00000514757.1:p.Ser346Thr
ENST00000700022.1:c.*421G>C	ENSP00000514758.1:n.*421G>C
ENST00000700023.1:n.2240G>C
ENST00000700024.1:n.2474G>C
ENST00000706954.1:c.1082G>C	ENSP00000516674.1:p.Ser361Thr
ENST00000706955.1:c.*1117G>C	ENSP00000516675.1:n.*1117G>C
ENST00000686459.1:c.*668G>C	ENSP00000508909.1:n.*668G>C
ENST00000688158.1:c.*1193G>C	ENSP00000509254.1:n.*1193G>C
ENST00000688308.1:c.1082G>C	ENSP00000508752.1:p.Ser361Thr
ENST00000688922.1:c.1003G>C
ENST00000693560.1:c.1601G>C	ENSP00000509861.1:p.Ser534Thr
ENST00000371953.8:c.1082G>C MANE Select	ENSP00000361021.3:p.Ser361Thr
ENST00000371953.7:c.1082G>C	ENSP00000361021.3:p.Ser361Thr
NM_000314.5:c.1082G>C	NP_000305.3:p.Ser361Thr
NM_000314.6:c.1082G>C	NP_000305.3:p.Ser361Thr
NM_001304717.2:c.1601G>C	NP_001291646.2:p.Ser534Thr
NM_001304718.1:c.491G>C	NP_001291647.1:p.Ser164Thr
XM_006717926.2:c.1037G>C	XP_006717989.1:p.Ser346Thr
XM_011539982.1:c.986G>C	XP_011538284.1:p.Ser329Thr
XR_945791.1:n.1652G>C
NM_000314.7:c.1082G>C	NP_000305.3:p.Ser361Thr
NM_001304717.5:c.1601G>C	NP_001291646.4:p.Ser534Thr
NM_001304718.2:c.491G>C	NP_001291647.1:p.Ser164Thr
NM_000314.8:c.1082G>C MANE Select	NP_000305.3:p.Ser361Thr