Canonical Allele Identifier: CA2499220455
Community Standard Title: NM_000314.8(PTEN):c.253+7A>G
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87931096A>G , CM000672.2:g.87931096A>G GRCh38
NC_000010.10:g.89690853A>G , CM000672.1:g.89690853A>G GRCh37
NC_000010.9:g.89680833A>G NCBI36
NG_007466.2:g.72658A>G , LRG_311:g.72658A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.253+7A>G MANE Select NP_000305.3:n.253+7A>G
ENST00000371953.8:c.253+7A>G MANE Select ENSP00000361021.3:n.253+7A>G
NM_000314.5:c.253+7A>G NP_000305.3:n.253+7A>G
NM_000314.6:c.253+7A>G NP_000305.3:n.253+7A>G
NM_000314.7:c.253+7A>G NP_000305.3:n.253+7A>G
NM_001304717.2:c.772+7A>G NP_001291646.2:n.772+7A>G
NM_001304717.5:c.772+7A>G NP_001291646.4:n.772+7A>G
NM_001304718.1:c.-498+7A>G NP_001291647.1:n.-498+7A>G
NM_001304718.2:c.-498+7A>G NP_001291647.1:n.-498+7A>G
ENST00000371953.7:c.253+7A>G ENSP00000361021.3:n.253+7A>G
ENST00000472832.3:c.253+7A>G ENSP00000483066.2:n.253+7A>G
ENST00000498703.1:n.79+7A>G
ENST00000610634.1:c.151+7A>G ENSP00000477517.1:n.151+7A>G
ENST00000686459.1:c.253+7A>G ENSP00000508909.1:n.253+7A>G
ENST00000688158.1:c.*364+7A>G ENSP00000509254.1:n.*364+7A>G
ENST00000688158.2:n.988+7A>G
ENST00000688308.1:c.253+7A>G ENSP00000508752.1:n.253+7A>G
ENST00000688922.1:c.174+7A>G
ENST00000688922.2:c.*83+7A>G ENSP00000508742.2:n.*83+7A>G
ENST00000693560.1:c.772+7A>G ENSP00000509861.1:n.772+7A>G
ENST00000700021.1:c.208+7A>G ENSP00000514757.1:n.208+7A>G
ENST00000700022.1:c.253+7A>G ENSP00000514758.1:n.253+7A>G
ENST00000700029.1:c.87+7A>G
ENST00000700029.2:c.253+7A>G ENSP00000514759.2:n.253+7A>G
ENST00000706954.1:c.253+7A>G ENSP00000516674.1:n.253+7A>G
ENST00000706955.1:c.*288+7A>G ENSP00000516675.1:n.*288+7A>G
ENST00000710265.1:c.253+7A>G ENSP00000518161.1:n.253+7A>G
XM_006717926.2:c.208+7A>G XP_006717989.1:n.208+7A>G
XM_011539981.1:c.253+7A>G XP_011538283.1:n.253+7A>G
XM_011539982.1:c.157+7A>G XP_011538284.1:n.157+7A>G
XR_945789.1:n.965+7A>G
XR_945790.1:n.965+7A>G
XR_945791.1:n.965+7A>G