Canonical Allele Identifier: CA470671084

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1049233
• ClinVar RCV Id: RCV001355083
• dbSNP Id: rs2132289564
• MyVariant Identifiers: chr10:g.89725100T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965343T>C , CM000672.2:g.87965343T>C	GRCh38
NC_000010.10:g.89725100T>C , CM000672.1:g.89725100T>C	GRCh37
NC_000010.9:g.89715080T>C	NCBI36
NG_007466.2:g.106905T>C , LRG_311:g.106905T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1176T>C	ENSP00000514759.2:p.Ser392=
ENST00000710265.1:c.*112T>C	ENSP00000518161.1:n.*112T>C
ENST00000688158.2:n.1818T>C
ENST00000688922.2:c.*913T>C	ENSP00000508742.2:n.*913T>C
ENST00000700021.1:c.1038T>C	ENSP00000514757.1:p.Ser346=
ENST00000700022.1:c.*422T>C	ENSP00000514758.1:n.*422T>C
ENST00000700023.1:n.2241T>C
ENST00000700024.1:n.2475T>C
ENST00000706954.1:c.1083T>C	ENSP00000516674.1:p.Ser361=
ENST00000706955.1:c.*1118T>C	ENSP00000516675.1:n.*1118T>C
ENST00000686459.1:c.*669T>C	ENSP00000508909.1:n.*669T>C
ENST00000688158.1:c.*1194T>C	ENSP00000509254.1:n.*1194T>C
ENST00000688308.1:c.1083T>C	ENSP00000508752.1:p.Ser361=
ENST00000688922.1:c.1004T>C
ENST00000693560.1:c.1602T>C	ENSP00000509861.1:p.Ser534=
ENST00000371953.8:c.1083T>C MANE Select	ENSP00000361021.3:p.Ser361=
ENST00000371953.7:c.1083T>C	ENSP00000361021.3:p.Ser361=
NM_000314.5:c.1083T>C	NP_000305.3:p.Ser361=
NM_000314.6:c.1083T>C	NP_000305.3:p.Ser361=
NM_001304717.2:c.1602T>C	NP_001291646.2:p.Ser534=
NM_001304718.1:c.492T>C	NP_001291647.1:p.Ser164=
XM_006717926.2:c.1038T>C	XP_006717989.1:p.Ser346=
XM_011539982.1:c.987T>C	XP_011538284.1:p.Ser329=
XR_945791.1:n.1653T>C
NM_000314.7:c.1083T>C	NP_000305.3:p.Ser361=
NM_001304717.5:c.1602T>C	NP_001291646.4:p.Ser534=
NM_001304718.2:c.492T>C	NP_001291647.1:p.Ser164=
NM_000314.8:c.1083T>C MANE Select	NP_000305.3:p.Ser361=