Canonical Allele Identifier: CA377485999

Gene: PTEN

Linked Data

• MyVariant Identifiers: chr10:g.89720809A>C (hg19) ; chr10:g.87961052A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961052A>C , CM000672.2:g.87961052A>C	GRCh38
NC_000010.10:g.89720809A>C , CM000672.1:g.89720809A>C	GRCh37
NC_000010.9:g.89710789A>C	NCBI36
NG_007466.2:g.102614A>C , LRG_311:g.102614A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1053A>C	ENSP00000514759.2:p.Leu351Phe
ENST00000710265.1:c.960A>C	ENSP00000518161.1:p.Leu320Phe
ENST00000472832.3:c.960A>C	ENSP00000483066.2:p.Leu320Phe
ENST00000688158.2:n.1695A>C
ENST00000688922.2:c.*790A>C	ENSP00000508742.2:n.*790A>C
ENST00000700021.1:c.915A>C	ENSP00000514757.1:p.Leu305Phe
ENST00000700022.1:c.*299A>C	ENSP00000514758.1:n.*299A>C
ENST00000700023.1:n.2118A>C
ENST00000700024.1:n.2352A>C
ENST00000700025.1:n.1729A>C
ENST00000700026.1:n.597A>C
ENST00000706954.1:c.960A>C	ENSP00000516674.1:p.Leu320Phe
ENST00000706955.1:c.*995A>C	ENSP00000516675.1:n.*995A>C
ENST00000686459.1:c.*546A>C	ENSP00000508909.1:n.*546A>C
ENST00000688158.1:c.*1071A>C	ENSP00000509254.1:n.*1071A>C
ENST00000688308.1:c.960A>C	ENSP00000508752.1:p.Leu320Phe
ENST00000688922.1:c.881A>C
ENST00000693560.1:c.1479A>C	ENSP00000509861.1:p.Leu493Phe
ENST00000371953.8:c.960A>C MANE Select	ENSP00000361021.3:p.Leu320Phe
ENST00000371953.7:c.960A>C	ENSP00000361021.3:p.Leu320Phe
ENST00000472832.2:c.387A>C	ENSP00000483066.1:p.Leu129Phe
NM_000314.5:c.960A>C	NP_000305.3:p.Leu320Phe
NM_000314.6:c.960A>C	NP_000305.3:p.Leu320Phe
NM_001304717.2:c.1479A>C	NP_001291646.2:p.Leu493Phe
NM_001304718.1:c.369A>C	NP_001291647.1:p.Leu123Phe
XM_006717926.2:c.915A>C	XP_006717989.1:p.Leu305Phe
XM_011539981.1:c.960A>C	XP_011538283.1:p.Leu320Phe
XM_011539982.1:c.864A>C	XP_011538284.1:p.Leu288Phe
XR_945791.1:n.1530A>C
NM_000314.7:c.960A>C	NP_000305.3:p.Leu320Phe
NM_001304717.5:c.1479A>C	NP_001291646.4:p.Leu493Phe
NM_001304718.2:c.369A>C	NP_001291647.1:p.Leu123Phe
NM_000314.8:c.960A>C MANE Select	NP_000305.3:p.Leu320Phe