Canonical Allele Identifier: CA377482162

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933072T>C , CM000672.2:g.87933072T>C	GRCh38
NC_000010.10:g.89692829T>C , CM000672.1:g.89692829T>C	GRCh37
NC_000010.9:g.89682809T>C	NCBI36
NG_007466.2:g.74634T>C , LRG_311:g.74634T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.313T>C MANE Select	NP_000305.3:p.Cys105Arg
ENST00000371953.8:c.313T>C MANE Select	ENSP00000361021.3:p.Cys105Arg
NM_000314.5:c.313T>C	NP_000305.3:p.Cys105Arg
NM_000314.6:c.313T>C	NP_000305.3:p.Cys105Arg
NM_000314.7:c.313T>C	NP_000305.3:p.Cys105Arg
NM_001304717.2:c.832T>C	NP_001291646.2:p.Cys278Arg
NM_001304717.5:c.832T>C	NP_001291646.4:p.Cys278Arg
NM_001304718.1:c.-438T>C	NP_001291647.1:n.-438T>C
NM_001304718.2:c.-438T>C	NP_001291647.1:n.-438T>C
ENST00000371953.7:c.313T>C	ENSP00000361021.3:p.Cys105Arg
ENST00000472832.3:c.313T>C	ENSP00000483066.2:p.Cys105Arg
ENST00000498703.1:n.139T>C
ENST00000610634.1:c.211T>C	ENSP00000477517.1:p.Cys71Arg
ENST00000686459.1:c.313T>C	ENSP00000508909.1:p.Cys105Arg
ENST00000688158.1:c.*424T>C	ENSP00000509254.1:n.*424T>C
ENST00000688158.2:n.1048T>C
ENST00000688308.1:c.313T>C	ENSP00000508752.1:p.Cys105Arg
ENST00000688922.1:c.234T>C
ENST00000688922.2:c.*143T>C	ENSP00000508742.2:n.*143T>C
ENST00000693560.1:c.832T>C	ENSP00000509861.1:p.Cys278Arg
ENST00000700021.1:c.268T>C	ENSP00000514757.1:p.Cys90Arg
ENST00000700022.1:c.313T>C	ENSP00000514758.1:p.Cys105Arg
ENST00000700029.1:c.147T>C
ENST00000700029.2:c.313T>C	ENSP00000514759.2:p.Cys105Arg
ENST00000706954.1:c.313T>C	ENSP00000516674.1:p.Cys105Arg
ENST00000706955.1:c.*348T>C	ENSP00000516675.1:n.*348T>C
ENST00000710265.1:c.313T>C	ENSP00000518161.1:p.Cys105Arg
XM_006717926.2:c.268T>C	XP_006717989.1:p.Cys90Arg
XM_011539981.1:c.313T>C	XP_011538283.1:p.Cys105Arg
XM_011539982.1:c.217T>C	XP_011538284.1:p.Cys73Arg
XR_945789.1:n.1025T>C
XR_945790.1:n.1025T>C
XR_945791.1:n.1025T>C