Canonical Allele Identifier: CA377485761

Gene: PTEN

Linked Data

• dbSNP Id: rs1114167674
• gnomAD v4: 10-87960987-G-C
• MyVariant Identifiers: chr10:g.89720744G>C (hg19) ; chr10:g.87960987G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960987G>C , CM000672.2:g.87960987G>C	GRCh38
NC_000010.10:g.89720744G>C , CM000672.1:g.89720744G>C	GRCh37
NC_000010.9:g.89710724G>C	NCBI36
NG_007466.2:g.102549G>C , LRG_311:g.102549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.988G>C	ENSP00000514759.2:p.Glu330Gln
ENST00000710265.1:c.895G>C	ENSP00000518161.1:p.Glu299Gln
ENST00000472832.3:c.895G>C	ENSP00000483066.2:p.Glu299Gln
ENST00000688158.2:n.1630G>C
ENST00000688922.2:c.*725G>C	ENSP00000508742.2:n.*725G>C
ENST00000700021.1:c.850G>C	ENSP00000514757.1:p.Glu284Gln
ENST00000700022.1:c.*234G>C	ENSP00000514758.1:n.*234G>C
ENST00000700023.1:n.2053G>C
ENST00000700024.1:n.2287G>C
ENST00000700025.1:n.1664G>C
ENST00000700026.1:n.532G>C
ENST00000706954.1:c.895G>C	ENSP00000516674.1:p.Glu299Gln
ENST00000706955.1:c.*930G>C	ENSP00000516675.1:n.*930G>C
ENST00000686459.1:c.*481G>C	ENSP00000508909.1:n.*481G>C
ENST00000688158.1:c.*1006G>C	ENSP00000509254.1:n.*1006G>C
ENST00000688308.1:c.895G>C	ENSP00000508752.1:p.Glu299Gln
ENST00000688922.1:c.816G>C
ENST00000693560.1:c.1414G>C	ENSP00000509861.1:p.Glu472Gln
ENST00000371953.8:c.895G>C MANE Select	ENSP00000361021.3:p.Glu299Gln
ENST00000371953.7:c.895G>C	ENSP00000361021.3:p.Glu299Gln
ENST00000472832.2:c.322G>C	ENSP00000483066.1:p.Glu108Gln
NM_000314.5:c.895G>C	NP_000305.3:p.Glu299Gln
NM_000314.6:c.895G>C	NP_000305.3:p.Glu299Gln
NM_001304717.2:c.1414G>C	NP_001291646.2:p.Glu472Gln
NM_001304718.1:c.304G>C	NP_001291647.1:p.Glu102Gln
XM_006717926.2:c.850G>C	XP_006717989.1:p.Glu284Gln
XM_011539981.1:c.895G>C	XP_011538283.1:p.Glu299Gln
XM_011539982.1:c.799G>C	XP_011538284.1:p.Glu267Gln
XR_945791.1:n.1465G>C
NM_000314.7:c.895G>C	NP_000305.3:p.Glu299Gln
NM_001304717.5:c.1414G>C	NP_001291646.4:p.Glu472Gln
NM_001304718.2:c.304G>C	NP_001291647.1:p.Glu102Gln
NM_000314.8:c.895G>C MANE Select	NP_000305.3:p.Glu299Gln