Canonical Allele Identifier: CA377484796

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957874A>C , CM000672.2:g.87957874A>C	GRCh38
NC_000010.10:g.89717631A>C , CM000672.1:g.89717631A>C	GRCh37
NC_000010.9:g.89707611A>C	NCBI36
NG_007466.2:g.99436A>C , LRG_311:g.99436A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.656A>C MANE Select	NP_000305.3:p.Gln219Pro
ENST00000371953.8:c.656A>C MANE Select	ENSP00000361021.3:p.Gln219Pro
NM_000314.5:c.656A>C	NP_000305.3:p.Gln219Pro
NM_000314.6:c.656A>C	NP_000305.3:p.Gln219Pro
NM_000314.7:c.656A>C	NP_000305.3:p.Gln219Pro
NM_001304717.2:c.1175A>C	NP_001291646.2:p.Gln392Pro
NM_001304717.5:c.1175A>C	NP_001291646.4:p.Gln392Pro
NM_001304718.1:c.65A>C	NP_001291647.1:p.Gln22Pro
NM_001304718.2:c.65A>C	NP_001291647.1:p.Gln22Pro
ENST00000371953.7:c.656A>C	ENSP00000361021.3:p.Gln219Pro
ENST00000472832.2:c.83A>C	ENSP00000483066.1:p.Gln28Pro
ENST00000472832.3:c.656A>C	ENSP00000483066.2:p.Gln219Pro
ENST00000686459.1:c.*242A>C	ENSP00000508909.1:n.*242A>C
ENST00000688158.1:c.*767A>C	ENSP00000509254.1:n.*767A>C
ENST00000688158.2:n.1391A>C
ENST00000688308.1:c.656A>C	ENSP00000508752.1:p.Gln219Pro
ENST00000688922.1:c.577A>C
ENST00000688922.2:c.*486A>C	ENSP00000508742.2:n.*486A>C
ENST00000693560.1:c.1175A>C	ENSP00000509861.1:p.Gln392Pro
ENST00000700021.1:c.611A>C	ENSP00000514757.1:p.Gln204Pro
ENST00000700022.1:c.514A>C	ENSP00000514758.1:p.Ser172Arg
ENST00000700023.1:n.1814A>C
ENST00000700024.1:n.2048A>C
ENST00000700025.1:n.1425A>C
ENST00000700026.1:n.293A>C
ENST00000700029.1:c.490A>C
ENST00000700029.2:c.656A>C	ENSP00000514759.2:p.Gln219Pro
ENST00000706954.1:c.656A>C	ENSP00000516674.1:p.Gln219Pro
ENST00000706955.1:c.*691A>C	ENSP00000516675.1:n.*691A>C
ENST00000710265.1:c.656A>C	ENSP00000518161.1:p.Gln219Pro
XM_006717926.2:c.611A>C	XP_006717989.1:p.Gln204Pro
XM_011539981.1:c.656A>C	XP_011538283.1:p.Gln219Pro
XM_011539982.1:c.560A>C	XP_011538284.1:p.Gln187Pro
XR_945791.1:n.1226A>C