Canonical Allele Identifier: CA470671248

Gene: PTEN

Linked Data

• ClinVar Variation Id: 468669
• ClinVar RCV Id: RCV000537864 ; RCV000561004
• dbSNP Id: rs1554826048
• MyVariant Identifiers: chr10:g.89725124T>C (hg19) ; chr10:g.87965367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965367T>C , CM000672.2:g.87965367T>C	GRCh38
NC_000010.10:g.89725124T>C , CM000672.1:g.89725124T>C	GRCh37
NC_000010.9:g.89715104T>C	NCBI36
NG_007466.2:g.106929T>C , LRG_311:g.106929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1200T>C	ENSP00000514759.2:p.Val400=
ENST00000710265.1:c.*136T>C	ENSP00000518161.1:n.*136T>C
ENST00000688158.2:n.1842T>C
ENST00000688922.2:c.*937T>C	ENSP00000508742.2:n.*937T>C
ENST00000700021.1:c.1062T>C	ENSP00000514757.1:p.Val354=
ENST00000700022.1:c.*446T>C	ENSP00000514758.1:n.*446T>C
ENST00000700023.1:n.2265T>C
ENST00000700024.1:n.2499T>C
ENST00000706954.1:c.1107T>C	ENSP00000516674.1:p.Val369=
ENST00000706955.1:c.*1142T>C	ENSP00000516675.1:n.*1142T>C
ENST00000686459.1:c.*693T>C	ENSP00000508909.1:n.*693T>C
ENST00000688158.1:c.*1218T>C	ENSP00000509254.1:n.*1218T>C
ENST00000688308.1:c.1107T>C	ENSP00000508752.1:p.Val369=
ENST00000688922.1:c.1028T>C
ENST00000693560.1:c.1626T>C	ENSP00000509861.1:p.Val542=
ENST00000371953.8:c.1107T>C MANE Select	ENSP00000361021.3:p.Val369=
ENST00000371953.7:c.1107T>C	ENSP00000361021.3:p.Val369=
NM_000314.5:c.1107T>C	NP_000305.3:p.Val369=
NM_000314.6:c.1107T>C	NP_000305.3:p.Val369=
NM_001304717.2:c.1626T>C	NP_001291646.2:p.Val542=
NM_001304718.1:c.516T>C	NP_001291647.1:p.Val172=
XM_006717926.2:c.1062T>C	XP_006717989.1:p.Val354=
XM_011539982.1:c.1011T>C	XP_011538284.1:p.Val337=
XR_945791.1:n.1677T>C
NM_000314.7:c.1107T>C	NP_000305.3:p.Val369=
NM_001304717.5:c.1626T>C	NP_001291646.4:p.Val542=
NM_001304718.2:c.516T>C	NP_001291647.1:p.Val172=
NM_000314.8:c.1107T>C MANE Select	NP_000305.3:p.Val369=