Canonical Allele Identifier: CA377485689

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1425524
• ClinVar RCV Id: RCV001926710
• dbSNP Id: rs2132282266
• MyVariant Identifiers: chr10:g.89720724A>G (hg19) ; chr10:g.87960967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960967A>G , CM000672.2:g.87960967A>G	GRCh38
NC_000010.10:g.89720724A>G , CM000672.1:g.89720724A>G	GRCh37
NC_000010.9:g.89710704A>G	NCBI36
NG_007466.2:g.102529A>G , LRG_311:g.102529A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.968A>G	ENSP00000514759.2:p.Asn323Ser
ENST00000710265.1:c.875A>G	ENSP00000518161.1:p.Asn292Ser
ENST00000472832.3:c.875A>G	ENSP00000483066.2:p.Asn292Ser
ENST00000688158.2:n.1610A>G
ENST00000688922.2:c.*705A>G	ENSP00000508742.2:n.*705A>G
ENST00000700021.1:c.830A>G	ENSP00000514757.1:p.Asn277Ser
ENST00000700022.1:c.*214A>G	ENSP00000514758.1:n.*214A>G
ENST00000700023.1:n.2033A>G
ENST00000700024.1:n.2267A>G
ENST00000700025.1:n.1644A>G
ENST00000700026.1:n.512A>G
ENST00000700029.1:c.802A>G
ENST00000706954.1:c.875A>G	ENSP00000516674.1:p.Asn292Ser
ENST00000706955.1:c.*910A>G	ENSP00000516675.1:n.*910A>G
ENST00000686459.1:c.*461A>G	ENSP00000508909.1:n.*461A>G
ENST00000688158.1:c.*986A>G	ENSP00000509254.1:n.*986A>G
ENST00000688308.1:c.875A>G	ENSP00000508752.1:p.Asn292Ser
ENST00000688922.1:c.796A>G
ENST00000693560.1:c.1394A>G	ENSP00000509861.1:p.Asn465Ser
ENST00000371953.8:c.875A>G MANE Select	ENSP00000361021.3:p.Asn292Ser
ENST00000371953.7:c.875A>G	ENSP00000361021.3:p.Asn292Ser
ENST00000472832.2:c.302A>G	ENSP00000483066.1:p.Asn101Ser
NM_000314.5:c.875A>G	NP_000305.3:p.Asn292Ser
NM_000314.6:c.875A>G	NP_000305.3:p.Asn292Ser
NM_001304717.2:c.1394A>G	NP_001291646.2:p.Asn465Ser
NM_001304718.1:c.284A>G	NP_001291647.1:p.Asn95Ser
XM_006717926.2:c.830A>G	XP_006717989.1:p.Asn277Ser
XM_011539981.1:c.875A>G	XP_011538283.1:p.Asn292Ser
XM_011539982.1:c.779A>G	XP_011538284.1:p.Asn260Ser
XR_945791.1:n.1445A>G
NM_000314.7:c.875A>G	NP_000305.3:p.Asn292Ser
NM_001304717.5:c.1394A>G	NP_001291646.4:p.Asn465Ser
NM_001304718.2:c.284A>G	NP_001291647.1:p.Asn95Ser
NM_000314.8:c.875A>G MANE Select	NP_000305.3:p.Asn292Ser