Canonical Allele Identifier: CA377487386

Gene: PTEN

Linked Data

• ClinVar Variation Id: 576918
• ClinVar RCV Id: RCV000699547 ; RCV002325407
• dbSNP Id: rs1564570452
• MyVariant Identifiers: chr10:g.89725177C>T (hg19) ; chr10:g.87965420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965420C>T , CM000672.2:g.87965420C>T	GRCh38
NC_000010.10:g.89725177C>T , CM000672.1:g.89725177C>T	GRCh37
NC_000010.9:g.89715157C>T	NCBI36
NG_007466.2:g.106982C>T , LRG_311:g.106982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1253C>T	ENSP00000514759.2:p.Pro418Leu
ENST00000710265.1:c.*189C>T	ENSP00000518161.1:n.*189C>T
ENST00000688158.2:n.1895C>T
ENST00000688922.2:c.*990C>T	ENSP00000508742.2:n.*990C>T
ENST00000700021.1:c.1115C>T	ENSP00000514757.1:p.Pro372Leu
ENST00000700022.1:c.*499C>T	ENSP00000514758.1:n.*499C>T
ENST00000700023.1:n.2318C>T
ENST00000700024.1:n.2552C>T
ENST00000706954.1:c.1160C>T	ENSP00000516674.1:p.Pro387Leu
ENST00000706955.1:c.*1195C>T	ENSP00000516675.1:n.*1195C>T
ENST00000686459.1:c.*746C>T	ENSP00000508909.1:n.*746C>T
ENST00000688158.1:c.*1271C>T	ENSP00000509254.1:n.*1271C>T
ENST00000688308.1:c.1160C>T	ENSP00000508752.1:p.Pro387Leu
ENST00000688922.1:c.1081C>T
ENST00000693560.1:c.1679C>T	ENSP00000509861.1:p.Pro560Leu
ENST00000371953.8:c.1160C>T MANE Select	ENSP00000361021.3:p.Pro387Leu
ENST00000371953.7:c.1160C>T	ENSP00000361021.3:p.Pro387Leu
NM_000314.5:c.1160C>T	NP_000305.3:p.Pro387Leu
NM_000314.6:c.1160C>T	NP_000305.3:p.Pro387Leu
NM_001304717.2:c.1679C>T	NP_001291646.2:p.Pro560Leu
NM_001304718.1:c.569C>T	NP_001291647.1:p.Pro190Leu
XM_006717926.2:c.1115C>T	XP_006717989.1:p.Pro372Leu
XM_011539982.1:c.1064C>T	XP_011538284.1:p.Pro355Leu
XR_945791.1:n.1730C>T
NM_000314.7:c.1160C>T	NP_000305.3:p.Pro387Leu
NM_001304717.5:c.1679C>T	NP_001291646.4:p.Pro560Leu
NM_001304718.2:c.569C>T	NP_001291647.1:p.Pro190Leu
NM_000314.8:c.1160C>T MANE Select	NP_000305.3:p.Pro387Leu