Canonical Allele Identifier: CA377485478

Gene: PTEN

Linked Data

• dbSNP Id: rs2132281806
• COSMIC: COSM96845
• MyVariant Identifiers: chr10:g.89720667T>C (hg19) ; chr10:g.87960910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960910T>C , CM000672.2:g.87960910T>C	GRCh38
NC_000010.10:g.89720667T>C , CM000672.1:g.89720667T>C	GRCh37
NC_000010.9:g.89710647T>C	NCBI36
NG_007466.2:g.102472T>C , LRG_311:g.102472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.911T>C	ENSP00000514759.2:p.Phe304Ser
ENST00000710265.1:c.818T>C	ENSP00000518161.1:p.Phe273Ser
ENST00000472832.3:c.818T>C	ENSP00000483066.2:p.Phe273Ser
ENST00000688158.2:n.1553T>C
ENST00000688922.2:c.*648T>C	ENSP00000508742.2:n.*648T>C
ENST00000700021.1:c.773T>C	ENSP00000514757.1:p.Phe258Ser
ENST00000700022.1:c.*157T>C	ENSP00000514758.1:n.*157T>C
ENST00000700023.1:n.1976T>C
ENST00000700024.1:n.2210T>C
ENST00000700025.1:n.1587T>C
ENST00000700026.1:n.455T>C
ENST00000700029.1:c.745T>C
ENST00000706954.1:c.818T>C	ENSP00000516674.1:p.Phe273Ser
ENST00000706955.1:c.*853T>C	ENSP00000516675.1:n.*853T>C
ENST00000686459.1:c.*404T>C	ENSP00000508909.1:n.*404T>C
ENST00000688158.1:c.*929T>C	ENSP00000509254.1:n.*929T>C
ENST00000688308.1:c.818T>C	ENSP00000508752.1:p.Phe273Ser
ENST00000688922.1:c.739T>C
ENST00000693560.1:c.1337T>C	ENSP00000509861.1:p.Phe446Ser
ENST00000371953.8:c.818T>C MANE Select	ENSP00000361021.3:p.Phe273Ser
ENST00000371953.7:c.818T>C	ENSP00000361021.3:p.Phe273Ser
ENST00000472832.2:c.245T>C	ENSP00000483066.1:p.Phe82Ser
NM_000314.5:c.818T>C	NP_000305.3:p.Phe273Ser
NM_000314.6:c.818T>C	NP_000305.3:p.Phe273Ser
NM_001304717.2:c.1337T>C	NP_001291646.2:p.Phe446Ser
NM_001304718.1:c.227T>C	NP_001291647.1:p.Phe76Ser
XM_006717926.2:c.773T>C	XP_006717989.1:p.Phe258Ser
XM_011539981.1:c.818T>C	XP_011538283.1:p.Phe273Ser
XM_011539982.1:c.722T>C	XP_011538284.1:p.Phe241Ser
XR_945791.1:n.1388T>C
NM_000314.7:c.818T>C	NP_000305.3:p.Phe273Ser
NM_001304717.5:c.1337T>C	NP_001291646.4:p.Phe446Ser
NM_001304718.2:c.227T>C	NP_001291647.1:p.Phe76Ser
NM_000314.8:c.818T>C MANE Select	NP_000305.3:p.Phe273Ser