Canonical Allele Identifier: CA060378

Gene: PTEN

Linked Data

• ClinVar Variation Id: 928466
• ClinVar RCV Id: RCV001192347
• dbSNP Id: rs141373793
• ExAC: 10:89717634 T / C
• gnomAD v2: 10-89717634-T-C
• gnomAD v3: 10-87957877-T-C
• gnomAD v4: 10-87957877-T-C
• MyVariant Identifiers: chr10:g.89717634T>C (hg19) ; chr10:g.87957877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957877T>C , CM000672.2:g.87957877T>C	GRCh38
NC_000010.10:g.89717634T>C , CM000672.1:g.89717634T>C	GRCh37
NC_000010.9:g.89707614T>C	NCBI36
NG_007466.2:g.99439T>C , LRG_311:g.99439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.659T>C	ENSP00000514759.2:p.Leu220Pro
ENST00000710265.1:c.659T>C	ENSP00000518161.1:p.Leu220Pro
ENST00000472832.3:c.659T>C	ENSP00000483066.2:p.Leu220Pro
ENST00000688158.2:n.1394T>C
ENST00000688922.2:c.*489T>C	ENSP00000508742.2:n.*489T>C
ENST00000700021.1:c.614T>C	ENSP00000514757.1:p.Leu205Pro
ENST00000700022.1:c.517T>C	ENSP00000514758.1:p.Ter173Gln
ENST00000700023.1:n.1817T>C
ENST00000700024.1:n.2051T>C
ENST00000700025.1:n.1428T>C
ENST00000700026.1:n.296T>C
ENST00000700029.1:c.493T>C
ENST00000706954.1:c.659T>C	ENSP00000516674.1:p.Leu220Pro
ENST00000706955.1:c.*694T>C	ENSP00000516675.1:n.*694T>C
ENST00000686459.1:c.*245T>C	ENSP00000508909.1:n.*245T>C
ENST00000688158.1:c.*770T>C	ENSP00000509254.1:n.*770T>C
ENST00000688308.1:c.659T>C	ENSP00000508752.1:p.Leu220Pro
ENST00000688922.1:c.580T>C
ENST00000693560.1:c.1178T>C	ENSP00000509861.1:p.Leu393Pro
ENST00000371953.8:c.659T>C MANE Select	ENSP00000361021.3:p.Leu220Pro
ENST00000371953.7:c.659T>C	ENSP00000361021.3:p.Leu220Pro
ENST00000472832.2:c.86T>C	ENSP00000483066.1:p.Leu29Pro
NM_000314.5:c.659T>C	NP_000305.3:p.Leu220Pro
NM_000314.6:c.659T>C	NP_000305.3:p.Leu220Pro
NM_001304717.2:c.1178T>C	NP_001291646.2:p.Leu393Pro
NM_001304718.1:c.68T>C	NP_001291647.1:p.Leu23Pro
XM_006717926.2:c.614T>C	XP_006717989.1:p.Leu205Pro
XM_011539981.1:c.659T>C	XP_011538283.1:p.Leu220Pro
XM_011539982.1:c.563T>C	XP_011538284.1:p.Leu188Pro
XR_945791.1:n.1229T>C
NM_000314.7:c.659T>C	NP_000305.3:p.Leu220Pro
NM_001304717.5:c.1178T>C	NP_001291646.4:p.Leu393Pro
NM_001304718.2:c.68T>C	NP_001291647.1:p.Leu23Pro
NM_000314.8:c.659T>C MANE Select	NP_000305.3:p.Leu220Pro