Canonical Allele Identifier: CA377782046

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1068214
• ClinVar RCV Id: RCV001379693
• dbSNP Id: rs786201506
• COSMIC: COSM39165
• MyVariant Identifiers: chr10:g.89624301G>C (hg19) ; chr10:g.87864544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864544G>C , CM000672.2:g.87864544G>C	GRCh38
NC_000010.10:g.89624301G>C , CM000672.1:g.89624301G>C	GRCh37
NC_000010.9:g.89614281G>C	NCBI36
NG_007466.2:g.6106G>C , LRG_311:g.6106G>C
NG_033079.1:g.3894C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.75G>C	ENSP00000514759.2:p.Leu25Phe
ENST00000710265.1:c.75G>C	ENSP00000518161.1:p.Leu25Phe
ENST00000472832.3:c.75G>C	ENSP00000483066.2:p.Leu25Phe
ENST00000688922.2:c.75G>C	ENSP00000508742.2:p.Leu25Phe
ENST00000700021.1:c.75G>C	ENSP00000514757.1:p.Leu25Phe
ENST00000700022.1:c.75G>C	ENSP00000514758.1:p.Leu25Phe
ENST00000706954.1:c.75G>C	ENSP00000516674.1:p.Leu25Phe
ENST00000706955.1:c.75G>C	ENSP00000516675.1:p.Leu25Phe
ENST00000686459.1:c.75G>C	ENSP00000508909.1:p.Leu25Phe
ENST00000688158.1:c.75G>C	ENSP00000509254.1:p.Leu25Phe
ENST00000688308.1:c.75G>C	ENSP00000508752.1:p.Leu25Phe
ENST00000693560.1:c.594G>C	ENSP00000509861.1:p.Leu198Phe
ENST00000371953.8:c.75G>C MANE Select	ENSP00000361021.3:p.Leu25Phe
ENST00000371953.7:c.75G>C	ENSP00000361021.3:p.Leu25Phe
ENST00000462694.1:n.77G>C
ENST00000487939.1:n.96G>C
ENST00000610634.1:c.-28G>C	ENSP00000477517.1:n.-28G>C
ENST00000618586.1:n.44G>C
NM_000314.5:c.75G>C	NP_000305.3:p.Leu25Phe
NM_000314.6:c.75G>C	NP_000305.3:p.Leu25Phe
NM_001304717.2:c.594G>C	NP_001291646.2:p.Leu198Phe
NM_001304718.1:c.-631G>C	NP_001291647.1:n.-631G>C
XM_006717926.2:c.75G>C	XP_006717989.1:p.Leu25Phe
XM_011539981.1:c.75G>C	XP_011538283.1:p.Leu25Phe
XR_945789.1:n.787G>C
XR_945790.1:n.787G>C
XR_945791.1:n.787G>C
NM_000314.7:c.75G>C	NP_000305.3:p.Leu25Phe
NM_001304717.5:c.594G>C	NP_001291646.4:p.Leu198Phe
NM_001304718.2:c.-631G>C	NP_001291647.1:n.-631G>C
NM_000314.8:c.75G>C MANE Select	NP_000305.3:p.Leu25Phe