Canonical Allele Identifier: CA377487470

Gene: PTEN

Linked Data

• dbSNP Id: rs2132290331
• gnomAD v4: 10-87965455-C-T
• MyVariant Identifiers: chr10:g.89725212C>T (hg19) ; chr10:g.87965455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965455C>T , CM000672.2:g.87965455C>T	GRCh38
NC_000010.10:g.89725212C>T , CM000672.1:g.89725212C>T	GRCh37
NC_000010.9:g.89715192C>T	NCBI36
NG_007466.2:g.107017C>T , LRG_311:g.107017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1288C>T	ENSP00000514759.2:p.Gln430Ter
ENST00000710265.1:c.*224C>T	ENSP00000518161.1:n.*224C>T
ENST00000688158.2:n.1930C>T
ENST00000688922.2:c.*1025C>T	ENSP00000508742.2:n.*1025C>T
ENST00000700021.1:c.1150C>T	ENSP00000514757.1:p.Gln384Ter
ENST00000700022.1:c.*534C>T	ENSP00000514758.1:n.*534C>T
ENST00000700023.1:n.2353C>T
ENST00000700024.1:n.2587C>T
ENST00000706954.1:c.1195C>T	ENSP00000516674.1:p.Gln399Ter
ENST00000706955.1:c.*1230C>T	ENSP00000516675.1:n.*1230C>T
ENST00000686459.1:c.*781C>T	ENSP00000508909.1:n.*781C>T
ENST00000688158.1:c.*1306C>T	ENSP00000509254.1:n.*1306C>T
ENST00000688308.1:c.1195C>T	ENSP00000508752.1:p.Gln399Ter
ENST00000688922.1:c.1116C>T
ENST00000693560.1:c.1714C>T	ENSP00000509861.1:p.Gln572Ter
ENST00000371953.8:c.1195C>T MANE Select	ENSP00000361021.3:p.Gln399Ter
ENST00000371953.7:c.1195C>T	ENSP00000361021.3:p.Gln399Ter
NM_000314.5:c.1195C>T	NP_000305.3:p.Gln399Ter
NM_000314.6:c.1195C>T	NP_000305.3:p.Gln399Ter
NM_001304717.2:c.1714C>T	NP_001291646.2:p.Gln572Ter
NM_001304718.1:c.604C>T	NP_001291647.1:p.Gln202Ter
XM_006717926.2:c.1150C>T	XP_006717989.1:p.Gln384Ter
XM_011539982.1:c.1099C>T	XP_011538284.1:p.Gln367Ter
XR_945791.1:n.1765C>T
NM_000314.7:c.1195C>T	NP_000305.3:p.Gln399Ter
NM_001304717.5:c.1714C>T	NP_001291646.4:p.Gln572Ter
NM_001304718.2:c.604C>T	NP_001291647.1:p.Gln202Ter
NM_000314.8:c.1195C>T MANE Select	NP_000305.3:p.Gln399Ter