Canonical Allele Identifier: CA377487383

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1062913
• ClinVar RCV Id: RCV001372683
• dbSNP Id: rs2132290116
• gnomAD v4: 10-87965419-C-T
• MyVariant Identifiers: chr10:g.89725176C>T (hg19) ; chr10:g.87965419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965419C>T , CM000672.2:g.87965419C>T	GRCh38
NC_000010.10:g.89725176C>T , CM000672.1:g.89725176C>T	GRCh37
NC_000010.9:g.89715156C>T	NCBI36
NG_007466.2:g.106981C>T , LRG_311:g.106981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1252C>T	ENSP00000514759.2:p.Pro418Ser
ENST00000710265.1:c.*188C>T	ENSP00000518161.1:n.*188C>T
ENST00000688158.2:n.1894C>T
ENST00000688922.2:c.*989C>T	ENSP00000508742.2:n.*989C>T
ENST00000700021.1:c.1114C>T	ENSP00000514757.1:p.Pro372Ser
ENST00000700022.1:c.*498C>T	ENSP00000514758.1:n.*498C>T
ENST00000700023.1:n.2317C>T
ENST00000700024.1:n.2551C>T
ENST00000706954.1:c.1159C>T	ENSP00000516674.1:p.Pro387Ser
ENST00000706955.1:c.*1194C>T	ENSP00000516675.1:n.*1194C>T
ENST00000686459.1:c.*745C>T	ENSP00000508909.1:n.*745C>T
ENST00000688158.1:c.*1270C>T	ENSP00000509254.1:n.*1270C>T
ENST00000688308.1:c.1159C>T	ENSP00000508752.1:p.Pro387Ser
ENST00000688922.1:c.1080C>T
ENST00000693560.1:c.1678C>T	ENSP00000509861.1:p.Pro560Ser
ENST00000371953.8:c.1159C>T MANE Select	ENSP00000361021.3:p.Pro387Ser
ENST00000371953.7:c.1159C>T	ENSP00000361021.3:p.Pro387Ser
NM_000314.5:c.1159C>T	NP_000305.3:p.Pro387Ser
NM_000314.6:c.1159C>T	NP_000305.3:p.Pro387Ser
NM_001304717.2:c.1678C>T	NP_001291646.2:p.Pro560Ser
NM_001304718.1:c.568C>T	NP_001291647.1:p.Pro190Ser
XM_006717926.2:c.1114C>T	XP_006717989.1:p.Pro372Ser
XM_011539982.1:c.1063C>T	XP_011538284.1:p.Pro355Ser
XR_945791.1:n.1729C>T
NM_000314.7:c.1159C>T	NP_000305.3:p.Pro387Ser
NM_001304717.5:c.1678C>T	NP_001291646.4:p.Pro560Ser
NM_001304718.2:c.568C>T	NP_001291647.1:p.Pro190Ser
NM_000314.8:c.1159C>T MANE Select	NP_000305.3:p.Pro387Ser