Canonical Allele Identifier: CA377487277

Gene: PTEN

Linked Data

• ClinVar Variation Id: 468670
• ClinVar RCV Id: RCV000550349 ; RCV000569805 ; RCV003884621
• dbSNP Id: rs1370349057
• gnomAD v2: 10-89725132-A-G
• gnomAD v4: 10-87965375-A-G
• MyVariant Identifiers: chr10:g.89725132A>G (hg19) ; chr10:g.87965375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965375A>G , CM000672.2:g.87965375A>G	GRCh38
NC_000010.10:g.89725132A>G , CM000672.1:g.89725132A>G	GRCh37
NC_000010.9:g.89715112A>G	NCBI36
NG_007466.2:g.106937A>G , LRG_311:g.106937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1208A>G	ENSP00000514759.2:p.Asn403Ser
ENST00000710265.1:c.*144A>G	ENSP00000518161.1:n.*144A>G
ENST00000688158.2:n.1850A>G
ENST00000688922.2:c.*945A>G	ENSP00000508742.2:n.*945A>G
ENST00000700021.1:c.1070A>G	ENSP00000514757.1:p.Asn357Ser
ENST00000700022.1:c.*454A>G	ENSP00000514758.1:n.*454A>G
ENST00000700023.1:n.2273A>G
ENST00000700024.1:n.2507A>G
ENST00000706954.1:c.1115A>G	ENSP00000516674.1:p.Asn372Ser
ENST00000706955.1:c.*1150A>G	ENSP00000516675.1:n.*1150A>G
ENST00000686459.1:c.*701A>G	ENSP00000508909.1:n.*701A>G
ENST00000688158.1:c.*1226A>G	ENSP00000509254.1:n.*1226A>G
ENST00000688308.1:c.1115A>G	ENSP00000508752.1:p.Asn372Ser
ENST00000688922.1:c.1036A>G
ENST00000693560.1:c.1634A>G	ENSP00000509861.1:p.Asn545Ser
ENST00000371953.8:c.1115A>G MANE Select	ENSP00000361021.3:p.Asn372Ser
ENST00000371953.7:c.1115A>G	ENSP00000361021.3:p.Asn372Ser
NM_000314.5:c.1115A>G	NP_000305.3:p.Asn372Ser
NM_000314.6:c.1115A>G	NP_000305.3:p.Asn372Ser
NM_001304717.2:c.1634A>G	NP_001291646.2:p.Asn545Ser
NM_001304718.1:c.524A>G	NP_001291647.1:p.Asn175Ser
XM_006717926.2:c.1070A>G	XP_006717989.1:p.Asn357Ser
XM_011539982.1:c.1019A>G	XP_011538284.1:p.Asn340Ser
XR_945791.1:n.1685A>G
NM_000314.7:c.1115A>G	NP_000305.3:p.Asn372Ser
NM_001304717.5:c.1634A>G	NP_001291646.4:p.Asn545Ser
NM_001304718.2:c.524A>G	NP_001291647.1:p.Asn175Ser
NM_000314.8:c.1115A>G MANE Select	NP_000305.3:p.Asn372Ser