Canonical Allele Identifier: CA377487452

Gene: PTEN

Linked Data

• dbSNP Id: rs754821870
• MyVariant Identifiers: chr10:g.89725204A>T (hg19) ; chr10:g.87965447A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965447A>T , CM000672.2:g.87965447A>T	GRCh38
NC_000010.10:g.89725204A>T , CM000672.1:g.89725204A>T	GRCh37
NC_000010.9:g.89715184A>T	NCBI36
NG_007466.2:g.107009A>T , LRG_311:g.107009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1280A>T	ENSP00000514759.2:p.Gln427Leu
ENST00000710265.1:c.*216A>T	ENSP00000518161.1:n.*216A>T
ENST00000688158.2:n.1922A>T
ENST00000688922.2:c.*1017A>T	ENSP00000508742.2:n.*1017A>T
ENST00000700021.1:c.1142A>T	ENSP00000514757.1:p.Gln381Leu
ENST00000700022.1:c.*526A>T	ENSP00000514758.1:n.*526A>T
ENST00000700023.1:n.2345A>T
ENST00000700024.1:n.2579A>T
ENST00000706954.1:c.1187A>T	ENSP00000516674.1:p.Gln396Leu
ENST00000706955.1:c.*1222A>T	ENSP00000516675.1:n.*1222A>T
ENST00000686459.1:c.*773A>T	ENSP00000508909.1:n.*773A>T
ENST00000688158.1:c.*1298A>T	ENSP00000509254.1:n.*1298A>T
ENST00000688308.1:c.1187A>T	ENSP00000508752.1:p.Gln396Leu
ENST00000688922.1:c.1108A>T
ENST00000693560.1:c.1706A>T	ENSP00000509861.1:p.Gln569Leu
ENST00000371953.8:c.1187A>T MANE Select	ENSP00000361021.3:p.Gln396Leu
ENST00000371953.7:c.1187A>T	ENSP00000361021.3:p.Gln396Leu
NM_000314.5:c.1187A>T	NP_000305.3:p.Gln396Leu
NM_000314.6:c.1187A>T	NP_000305.3:p.Gln396Leu
NM_001304717.2:c.1706A>T	NP_001291646.2:p.Gln569Leu
NM_001304718.1:c.596A>T	NP_001291647.1:p.Gln199Leu
XM_006717926.2:c.1142A>T	XP_006717989.1:p.Gln381Leu
XM_011539982.1:c.1091A>T	XP_011538284.1:p.Gln364Leu
XR_945791.1:n.1757A>T
NM_000314.7:c.1187A>T	NP_000305.3:p.Gln396Leu
NM_001304717.5:c.1706A>T	NP_001291646.4:p.Gln569Leu
NM_001304718.2:c.596A>T	NP_001291647.1:p.Gln199Leu
NM_000314.8:c.1187A>T MANE Select	NP_000305.3:p.Gln396Leu