Canonical Allele Identifier: CA377484784

Gene: PTEN

Linked Data

• dbSNP Id: rs1060500117
• COSMIC: COSM5084
• MyVariant Identifiers: chr10:g.89717625T>C (hg19) ; chr10:g.87957868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957868T>C , CM000672.2:g.87957868T>C	GRCh38
NC_000010.10:g.89717625T>C , CM000672.1:g.89717625T>C	GRCh37
NC_000010.9:g.89707605T>C	NCBI36
NG_007466.2:g.99430T>C , LRG_311:g.99430T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.650T>C	ENSP00000514759.2:p.Val217Ala
ENST00000710265.1:c.650T>C	ENSP00000518161.1:p.Val217Ala
ENST00000472832.3:c.650T>C	ENSP00000483066.2:p.Val217Ala
ENST00000688158.2:n.1385T>C
ENST00000688922.2:c.*480T>C	ENSP00000508742.2:n.*480T>C
ENST00000700021.1:c.605T>C	ENSP00000514757.1:p.Val202Ala
ENST00000700022.1:c.508T>C	ENSP00000514758.1:p.Ser170Pro
ENST00000700023.1:n.1808T>C
ENST00000700024.1:n.2042T>C
ENST00000700025.1:n.1419T>C
ENST00000700026.1:n.287T>C
ENST00000700029.1:c.484T>C
ENST00000706954.1:c.650T>C	ENSP00000516674.1:p.Val217Ala
ENST00000706955.1:c.*685T>C	ENSP00000516675.1:n.*685T>C
ENST00000686459.1:c.*236T>C	ENSP00000508909.1:n.*236T>C
ENST00000688158.1:c.*761T>C	ENSP00000509254.1:n.*761T>C
ENST00000688308.1:c.650T>C	ENSP00000508752.1:p.Val217Ala
ENST00000688922.1:c.571T>C
ENST00000693560.1:c.1169T>C	ENSP00000509861.1:p.Val390Ala
ENST00000371953.8:c.650T>C MANE Select	ENSP00000361021.3:p.Val217Ala
ENST00000371953.7:c.650T>C	ENSP00000361021.3:p.Val217Ala
ENST00000472832.2:c.77T>C	ENSP00000483066.1:p.Val26Ala
NM_000314.5:c.650T>C	NP_000305.3:p.Val217Ala
NM_000314.6:c.650T>C	NP_000305.3:p.Val217Ala
NM_001304717.2:c.1169T>C	NP_001291646.2:p.Val390Ala
NM_001304718.1:c.59T>C	NP_001291647.1:p.Val20Ala
XM_006717926.2:c.605T>C	XP_006717989.1:p.Val202Ala
XM_011539981.1:c.650T>C	XP_011538283.1:p.Val217Ala
XM_011539982.1:c.554T>C	XP_011538284.1:p.Val185Ala
XR_945791.1:n.1220T>C
NM_000314.7:c.650T>C	NP_000305.3:p.Val217Ala
NM_001304717.5:c.1169T>C	NP_001291646.4:p.Val390Ala
NM_001304718.2:c.59T>C	NP_001291647.1:p.Val20Ala
NM_000314.8:c.650T>C MANE Select	NP_000305.3:p.Val217Ala