Canonical Allele Identifier: CA377484933

Gene: PTEN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957940T>A , CM000672.2:g.87957940T>A	GRCh38
NC_000010.10:g.89717697T>A , CM000672.1:g.89717697T>A	GRCh37
NC_000010.9:g.89707677T>A	NCBI36
NG_007466.2:g.99502T>A , LRG_311:g.99502T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.722T>A	ENSP00000514759.2:p.Phe241Tyr
ENST00000710265.1:c.722T>A	ENSP00000518161.1:p.Phe241Tyr
ENST00000472832.3:c.722T>A	ENSP00000483066.2:p.Phe241Tyr
ENST00000688158.2:n.1457T>A
ENST00000688922.2:c.*552T>A	ENSP00000508742.2:n.*552T>A
ENST00000700021.1:c.677T>A	ENSP00000514757.1:p.Phe226Tyr
ENST00000700022.1:c.*61T>A	ENSP00000514758.1:n.*61T>A
ENST00000700023.1:n.1880T>A
ENST00000700024.1:n.2114T>A
ENST00000700025.1:n.1491T>A
ENST00000700026.1:n.359T>A
ENST00000700029.1:c.556T>A
ENST00000706954.1:c.722T>A	ENSP00000516674.1:p.Phe241Tyr
ENST00000706955.1:c.*757T>A	ENSP00000516675.1:n.*757T>A
ENST00000686459.1:c.*308T>A	ENSP00000508909.1:n.*308T>A
ENST00000688158.1:c.*833T>A	ENSP00000509254.1:n.*833T>A
ENST00000688308.1:c.722T>A	ENSP00000508752.1:p.Phe241Tyr
ENST00000688922.1:c.643T>A
ENST00000693560.1:c.1241T>A	ENSP00000509861.1:p.Phe414Tyr
ENST00000371953.8:c.722T>A MANE Select	ENSP00000361021.3:p.Phe241Tyr
ENST00000371953.7:c.722T>A	ENSP00000361021.3:p.Phe241Tyr
ENST00000472832.2:c.149T>A	ENSP00000483066.1:p.Phe50Tyr
NM_000314.5:c.722T>A	NP_000305.3:p.Phe241Tyr
NM_000314.6:c.722T>A	NP_000305.3:p.Phe241Tyr
NM_001304717.2:c.1241T>A	NP_001291646.2:p.Phe414Tyr
NM_001304718.1:c.131T>A	NP_001291647.1:p.Phe44Tyr
XM_006717926.2:c.677T>A	XP_006717989.1:p.Phe226Tyr
XM_011539981.1:c.722T>A	XP_011538283.1:p.Phe241Tyr
XM_011539982.1:c.626T>A	XP_011538284.1:p.Phe209Tyr
XR_945791.1:n.1292T>A
NM_000314.7:c.722T>A	NP_000305.3:p.Phe241Tyr
NM_001304717.5:c.1241T>A	NP_001291646.4:p.Phe414Tyr
NM_001304718.2:c.131T>A	NP_001291647.1:p.Phe44Tyr
NM_000314.8:c.722T>A MANE Select	NP_000305.3:p.Phe241Tyr