Canonical Allele Identifier: CA377482788

Gene: PTEN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933228G>C , CM000672.2:g.87933228G>C	GRCh38
NC_000010.10:g.89692985G>C , CM000672.1:g.89692985G>C	GRCh37
NC_000010.9:g.89682965G>C	NCBI36
NG_007466.2:g.74790G>C , LRG_311:g.74790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.469G>C	ENSP00000514759.2:p.Glu157Gln
ENST00000710265.1:c.469G>C	ENSP00000518161.1:p.Glu157Gln
ENST00000472832.3:c.469G>C	ENSP00000483066.2:p.Glu157Gln
ENST00000688158.2:n.1204G>C
ENST00000688922.2:c.*299G>C	ENSP00000508742.2:n.*299G>C
ENST00000700021.1:c.424G>C	ENSP00000514757.1:p.Glu142Gln
ENST00000700022.1:c.469G>C	ENSP00000514758.1:p.Glu157Gln
ENST00000700029.1:c.303G>C
ENST00000706954.1:c.469G>C	ENSP00000516674.1:p.Glu157Gln
ENST00000706955.1:c.*504G>C	ENSP00000516675.1:n.*504G>C
ENST00000686459.1:c.469G>C	ENSP00000508909.1:p.Glu157Gln
ENST00000688158.1:c.*580G>C	ENSP00000509254.1:n.*580G>C
ENST00000688308.1:c.469G>C	ENSP00000508752.1:p.Glu157Gln
ENST00000688922.1:c.390G>C
ENST00000693560.1:c.988G>C	ENSP00000509861.1:p.Glu330Gln
ENST00000371953.8:c.469G>C MANE Select	ENSP00000361021.3:p.Glu157Gln
ENST00000371953.7:c.469G>C	ENSP00000361021.3:p.Glu157Gln
ENST00000498703.1:n.295G>C
ENST00000610634.1:c.367G>C	ENSP00000477517.1:p.Glu123Gln
NM_000314.5:c.469G>C	NP_000305.3:p.Glu157Gln
NM_000314.6:c.469G>C	NP_000305.3:p.Glu157Gln
NM_001304717.2:c.988G>C	NP_001291646.2:p.Glu330Gln
NM_001304718.1:c.-282G>C	NP_001291647.1:n.-282G>C
XM_006717926.2:c.424G>C	XP_006717989.1:p.Glu142Gln
XM_011539981.1:c.469G>C	XP_011538283.1:p.Glu157Gln
XM_011539982.1:c.373G>C	XP_011538284.1:p.Glu125Gln
XR_945789.1:n.1181G>C
XR_945790.1:n.1181G>C
XR_945791.1:n.1181G>C
NM_000314.7:c.469G>C	NP_000305.3:p.Glu157Gln
NM_001304717.5:c.988G>C	NP_001291646.4:p.Glu330Gln
NM_001304718.2:c.-282G>C	NP_001291647.1:n.-282G>C
NM_000314.8:c.469G>C MANE Select	NP_000305.3:p.Glu157Gln