Canonical Allele Identifier: CA377484786

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2866544
• ClinVar RCV Id: RCV003619193
• MyVariant Identifiers: chr10:g.89717627T>C (hg19) ; chr10:g.87957870T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957870T>C , CM000672.2:g.87957870T>C	GRCh38
NC_000010.10:g.89717627T>C , CM000672.1:g.89717627T>C	GRCh37
NC_000010.9:g.89707607T>C	NCBI36
NG_007466.2:g.99432T>C , LRG_311:g.99432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.652T>C	ENSP00000514759.2:p.Cys218Arg
ENST00000710265.1:c.652T>C	ENSP00000518161.1:p.Cys218Arg
ENST00000472832.3:c.652T>C	ENSP00000483066.2:p.Cys218Arg
ENST00000688158.2:n.1387T>C
ENST00000688922.2:c.*482T>C	ENSP00000508742.2:n.*482T>C
ENST00000700021.1:c.607T>C	ENSP00000514757.1:p.Cys203Arg
ENST00000700022.1:c.510T>C	ENSP00000514758.1:p.Ser170=
ENST00000700023.1:n.1810T>C
ENST00000700024.1:n.2044T>C
ENST00000700025.1:n.1421T>C
ENST00000700026.1:n.289T>C
ENST00000700029.1:c.486T>C
ENST00000706954.1:c.652T>C	ENSP00000516674.1:p.Cys218Arg
ENST00000706955.1:c.*687T>C	ENSP00000516675.1:n.*687T>C
ENST00000686459.1:c.*238T>C	ENSP00000508909.1:n.*238T>C
ENST00000688158.1:c.*763T>C	ENSP00000509254.1:n.*763T>C
ENST00000688308.1:c.652T>C	ENSP00000508752.1:p.Cys218Arg
ENST00000688922.1:c.573T>C
ENST00000693560.1:c.1171T>C	ENSP00000509861.1:p.Cys391Arg
ENST00000371953.8:c.652T>C MANE Select	ENSP00000361021.3:p.Cys218Arg
ENST00000371953.7:c.652T>C	ENSP00000361021.3:p.Cys218Arg
ENST00000472832.2:c.79T>C	ENSP00000483066.1:p.Cys27Arg
NM_000314.5:c.652T>C	NP_000305.3:p.Cys218Arg
NM_000314.6:c.652T>C	NP_000305.3:p.Cys218Arg
NM_001304717.2:c.1171T>C	NP_001291646.2:p.Cys391Arg
NM_001304718.1:c.61T>C	NP_001291647.1:p.Cys21Arg
XM_006717926.2:c.607T>C	XP_006717989.1:p.Cys203Arg
XM_011539981.1:c.652T>C	XP_011538283.1:p.Cys218Arg
XM_011539982.1:c.556T>C	XP_011538284.1:p.Cys186Arg
XR_945791.1:n.1222T>C
NM_000314.7:c.652T>C	NP_000305.3:p.Cys218Arg
NM_001304717.5:c.1171T>C	NP_001291646.4:p.Cys391Arg
NM_001304718.2:c.61T>C	NP_001291647.1:p.Cys21Arg
NM_000314.8:c.652T>C MANE Select	NP_000305.3:p.Cys218Arg