Canonical Allele Identifier: CA377781939

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428195
• ClinVar RCV Id: RCV000491437 ; RCV001821414 ; RCV003449271
• dbSNP Id: rs1064796078
• gnomAD v4: 10-87864515-T-C
• MyVariant Identifiers: chr10:g.89624272T>C (hg19) ; chr10:g.87864515T>C (hg38)
• ERepo: CA377781939/MONDO:0017623/003
• PubMed: PMID:24778394

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864515T>C , CM000672.2:g.87864515T>C	GRCh38
NC_000010.10:g.89624272T>C , CM000672.1:g.89624272T>C	GRCh37
NC_000010.9:g.89614252T>C	NCBI36
NG_007466.2:g.6077T>C , LRG_311:g.6077T>C
NG_033079.1:g.3923A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.46T>C	ENSP00000514759.2:p.Tyr16His
ENST00000710265.1:c.46T>C	ENSP00000518161.1:p.Tyr16His
ENST00000472832.3:c.46T>C	ENSP00000483066.2:p.Tyr16His
ENST00000688922.2:c.46T>C	ENSP00000508742.2:p.Tyr16His
ENST00000700021.1:c.46T>C	ENSP00000514757.1:p.Tyr16His
ENST00000700022.1:c.46T>C	ENSP00000514758.1:p.Tyr16His
ENST00000706954.1:c.46T>C	ENSP00000516674.1:p.Tyr16His
ENST00000706955.1:c.46T>C	ENSP00000516675.1:p.Tyr16His
ENST00000686459.1:c.46T>C	ENSP00000508909.1:p.Tyr16His
ENST00000688158.1:c.46T>C	ENSP00000509254.1:p.Tyr16His
ENST00000688308.1:c.46T>C	ENSP00000508752.1:p.Tyr16His
ENST00000693560.1:c.565T>C	ENSP00000509861.1:p.Tyr189His
ENST00000371953.8:c.46T>C MANE Select	ENSP00000361021.3:p.Tyr16His
ENST00000371953.7:c.46T>C	ENSP00000361021.3:p.Tyr16His
ENST00000462694.1:n.48T>C
ENST00000487939.1:n.67T>C
ENST00000610634.1:c.-57T>C	ENSP00000477517.1:n.-57T>C
ENST00000618586.1:n.15T>C
NM_000314.5:c.46T>C	NP_000305.3:p.Tyr16His
NM_000314.6:c.46T>C	NP_000305.3:p.Tyr16His
NM_001304717.2:c.565T>C	NP_001291646.2:p.Tyr189His
NM_001304718.1:c.-660T>C	NP_001291647.1:n.-660T>C
XM_006717926.2:c.46T>C	XP_006717989.1:p.Tyr16His
XM_011539981.1:c.46T>C	XP_011538283.1:p.Tyr16His
XR_945789.1:n.758T>C
XR_945790.1:n.758T>C
XR_945791.1:n.758T>C
NM_000314.7:c.46T>C	NP_000305.3:p.Tyr16His
NM_001304717.5:c.565T>C	NP_001291646.4:p.Tyr189His
NM_001304718.2:c.-660T>C	NP_001291647.1:n.-660T>C
NM_000314.8:c.46T>C MANE Select	NP_000305.3:p.Tyr16His