Canonical Allele Identifier: CA16605993

Gene: PTEN

Linked Data

• ClinVar Variation Id: 391121
• ClinVar RCV Id: RCV000526355 ; RCV000565755 ; RCV001712302
• dbSNP Id: rs1057523975
• gnomAD v4: 10-87965421-A-G
• MyVariant Identifiers: chr10:g.89725178A>G (hg19) ; chr10:g.87965421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965421A>G , CM000672.2:g.87965421A>G	GRCh38
NC_000010.10:g.89725178A>G , CM000672.1:g.89725178A>G	GRCh37
NC_000010.9:g.89715158A>G	NCBI36
NG_007466.2:g.106983A>G , LRG_311:g.106983A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1254A>G	ENSP00000514759.2:p.Pro418=
ENST00000710265.1:c.*190A>G	ENSP00000518161.1:n.*190A>G
ENST00000688158.2:n.1896A>G
ENST00000688922.2:c.*991A>G	ENSP00000508742.2:n.*991A>G
ENST00000700021.1:c.1116A>G	ENSP00000514757.1:p.Pro372=
ENST00000700022.1:c.*500A>G	ENSP00000514758.1:n.*500A>G
ENST00000700023.1:n.2319A>G
ENST00000700024.1:n.2553A>G
ENST00000706954.1:c.1161A>G	ENSP00000516674.1:p.Pro387=
ENST00000706955.1:c.*1196A>G	ENSP00000516675.1:n.*1196A>G
ENST00000686459.1:c.*747A>G	ENSP00000508909.1:n.*747A>G
ENST00000688158.1:c.*1272A>G	ENSP00000509254.1:n.*1272A>G
ENST00000688308.1:c.1161A>G	ENSP00000508752.1:p.Pro387=
ENST00000688922.1:c.1082A>G
ENST00000693560.1:c.1680A>G	ENSP00000509861.1:p.Pro560=
ENST00000371953.8:c.1161A>G MANE Select	ENSP00000361021.3:p.Pro387=
ENST00000371953.7:c.1161A>G	ENSP00000361021.3:p.Pro387=
NM_000314.5:c.1161A>G	NP_000305.3:p.Pro387=
NM_000314.6:c.1161A>G	NP_000305.3:p.Pro387=
NM_001304717.2:c.1680A>G	NP_001291646.2:p.Pro560=
NM_001304718.1:c.570A>G	NP_001291647.1:p.Pro190=
XM_006717926.2:c.1116A>G	XP_006717989.1:p.Pro372=
XM_011539982.1:c.1065A>G	XP_011538284.1:p.Pro355=
XR_945791.1:n.1731A>G
NM_000314.7:c.1161A>G	NP_000305.3:p.Pro387=
NM_001304717.5:c.1680A>G	NP_001291646.4:p.Pro560=
NM_001304718.2:c.570A>G	NP_001291647.1:p.Pro190=
NM_000314.8:c.1161A>G MANE Select	NP_000305.3:p.Pro387=