Canonical Allele Identifier: CA377485553

Gene: PTEN

Linked Data

• ClinVar Variation Id: 822361
• ClinVar RCV Id: RCV001017657
• dbSNP Id: rs1474354667
• gnomAD v4: 10-87960930-A-C
• MyVariant Identifiers: chr10:g.89720687A>C (hg19) ; chr10:g.87960930A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960930A>C , CM000672.2:g.87960930A>C	GRCh38
NC_000010.10:g.89720687A>C , CM000672.1:g.89720687A>C	GRCh37
NC_000010.9:g.89710667A>C	NCBI36
NG_007466.2:g.102492A>C , LRG_311:g.102492A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.931A>C	ENSP00000514759.2:p.Ile311Leu
ENST00000710265.1:c.838A>C	ENSP00000518161.1:p.Ile280Leu
ENST00000472832.3:c.838A>C	ENSP00000483066.2:p.Ile280Leu
ENST00000688158.2:n.1573A>C
ENST00000688922.2:c.*668A>C	ENSP00000508742.2:n.*668A>C
ENST00000700021.1:c.793A>C	ENSP00000514757.1:p.Ile265Leu
ENST00000700022.1:c.*177A>C	ENSP00000514758.1:n.*177A>C
ENST00000700023.1:n.1996A>C
ENST00000700024.1:n.2230A>C
ENST00000700025.1:n.1607A>C
ENST00000700026.1:n.475A>C
ENST00000700029.1:c.765A>C
ENST00000706954.1:c.838A>C	ENSP00000516674.1:p.Ile280Leu
ENST00000706955.1:c.*873A>C	ENSP00000516675.1:n.*873A>C
ENST00000686459.1:c.*424A>C	ENSP00000508909.1:n.*424A>C
ENST00000688158.1:c.*949A>C	ENSP00000509254.1:n.*949A>C
ENST00000688308.1:c.838A>C	ENSP00000508752.1:p.Ile280Leu
ENST00000688922.1:c.759A>C
ENST00000693560.1:c.1357A>C	ENSP00000509861.1:p.Ile453Leu
ENST00000371953.8:c.838A>C MANE Select	ENSP00000361021.3:p.Ile280Leu
ENST00000371953.7:c.838A>C	ENSP00000361021.3:p.Ile280Leu
ENST00000472832.2:c.265A>C	ENSP00000483066.1:p.Ile89Leu
NM_000314.5:c.838A>C	NP_000305.3:p.Ile280Leu
NM_000314.6:c.838A>C	NP_000305.3:p.Ile280Leu
NM_001304717.2:c.1357A>C	NP_001291646.2:p.Ile453Leu
NM_001304718.1:c.247A>C	NP_001291647.1:p.Ile83Leu
XM_006717926.2:c.793A>C	XP_006717989.1:p.Ile265Leu
XM_011539981.1:c.838A>C	XP_011538283.1:p.Ile280Leu
XM_011539982.1:c.742A>C	XP_011538284.1:p.Ile248Leu
XR_945791.1:n.1408A>C
NM_000314.7:c.838A>C	NP_000305.3:p.Ile280Leu
NM_001304717.5:c.1357A>C	NP_001291646.4:p.Ile453Leu
NM_001304718.2:c.247A>C	NP_001291647.1:p.Ile83Leu
NM_000314.8:c.838A>C MANE Select	NP_000305.3:p.Ile280Leu