Canonical Allele Identifier: CA377487224

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1022675
• ClinVar RCV Id: RCV001322614
• dbSNP Id: rs1860735904
• MyVariant Identifiers: chr10:g.89725107T>C (hg19) ; chr10:g.87965350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965350T>C , CM000672.2:g.87965350T>C	GRCh38
NC_000010.10:g.89725107T>C , CM000672.1:g.89725107T>C	GRCh37
NC_000010.9:g.89715087T>C	NCBI36
NG_007466.2:g.106912T>C , LRG_311:g.106912T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1183T>C	ENSP00000514759.2:p.Ser395Pro
ENST00000710265.1:c.*119T>C	ENSP00000518161.1:n.*119T>C
ENST00000688158.2:n.1825T>C
ENST00000688922.2:c.*920T>C	ENSP00000508742.2:n.*920T>C
ENST00000700021.1:c.1045T>C	ENSP00000514757.1:p.Ser349Pro
ENST00000700022.1:c.*429T>C	ENSP00000514758.1:n.*429T>C
ENST00000700023.1:n.2248T>C
ENST00000700024.1:n.2482T>C
ENST00000706954.1:c.1090T>C	ENSP00000516674.1:p.Ser364Pro
ENST00000706955.1:c.*1125T>C	ENSP00000516675.1:n.*1125T>C
ENST00000686459.1:c.*676T>C	ENSP00000508909.1:n.*676T>C
ENST00000688158.1:c.*1201T>C	ENSP00000509254.1:n.*1201T>C
ENST00000688308.1:c.1090T>C	ENSP00000508752.1:p.Ser364Pro
ENST00000688922.1:c.1011T>C
ENST00000693560.1:c.1609T>C	ENSP00000509861.1:p.Ser537Pro
ENST00000371953.8:c.1090T>C MANE Select	ENSP00000361021.3:p.Ser364Pro
ENST00000371953.7:c.1090T>C	ENSP00000361021.3:p.Ser364Pro
NM_000314.5:c.1090T>C	NP_000305.3:p.Ser364Pro
NM_000314.6:c.1090T>C	NP_000305.3:p.Ser364Pro
NM_001304717.2:c.1609T>C	NP_001291646.2:p.Ser537Pro
NM_001304718.1:c.499T>C	NP_001291647.1:p.Ser167Pro
XM_006717926.2:c.1045T>C	XP_006717989.1:p.Ser349Pro
XM_011539982.1:c.994T>C	XP_011538284.1:p.Ser332Pro
XR_945791.1:n.1660T>C
NM_000314.7:c.1090T>C	NP_000305.3:p.Ser364Pro
NM_001304717.5:c.1609T>C	NP_001291646.4:p.Ser537Pro
NM_001304718.2:c.499T>C	NP_001291647.1:p.Ser167Pro
NM_000314.8:c.1090T>C MANE Select	NP_000305.3:p.Ser364Pro