Canonical Allele Identifier: CA377487448

Gene: PTEN

Linked Data

• dbSNP Id: rs2132290270
• gnomAD v4: 10-87965446-C-T
• MyVariant Identifiers: chr10:g.89725203C>T (hg19) ; chr10:g.87965446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965446C>T , CM000672.2:g.87965446C>T	GRCh38
NC_000010.10:g.89725203C>T , CM000672.1:g.89725203C>T	GRCh37
NC_000010.9:g.89715183C>T	NCBI36
NG_007466.2:g.107008C>T , LRG_311:g.107008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1279C>T	ENSP00000514759.2:p.Gln427Ter
ENST00000710265.1:c.*215C>T	ENSP00000518161.1:n.*215C>T
ENST00000688158.2:n.1921C>T
ENST00000688922.2:c.*1016C>T	ENSP00000508742.2:n.*1016C>T
ENST00000700021.1:c.1141C>T	ENSP00000514757.1:p.Gln381Ter
ENST00000700022.1:c.*525C>T	ENSP00000514758.1:n.*525C>T
ENST00000700023.1:n.2344C>T
ENST00000700024.1:n.2578C>T
ENST00000706954.1:c.1186C>T	ENSP00000516674.1:p.Gln396Ter
ENST00000706955.1:c.*1221C>T	ENSP00000516675.1:n.*1221C>T
ENST00000686459.1:c.*772C>T	ENSP00000508909.1:n.*772C>T
ENST00000688158.1:c.*1297C>T	ENSP00000509254.1:n.*1297C>T
ENST00000688308.1:c.1186C>T	ENSP00000508752.1:p.Gln396Ter
ENST00000688922.1:c.1107C>T
ENST00000693560.1:c.1705C>T	ENSP00000509861.1:p.Gln569Ter
ENST00000371953.8:c.1186C>T MANE Select	ENSP00000361021.3:p.Gln396Ter
ENST00000371953.7:c.1186C>T	ENSP00000361021.3:p.Gln396Ter
NM_000314.5:c.1186C>T	NP_000305.3:p.Gln396Ter
NM_000314.6:c.1186C>T	NP_000305.3:p.Gln396Ter
NM_001304717.2:c.1705C>T	NP_001291646.2:p.Gln569Ter
NM_001304718.1:c.595C>T	NP_001291647.1:p.Gln199Ter
XM_006717926.2:c.1141C>T	XP_006717989.1:p.Gln381Ter
XM_011539982.1:c.1090C>T	XP_011538284.1:p.Gln364Ter
XR_945791.1:n.1756C>T
NM_000314.7:c.1186C>T	NP_000305.3:p.Gln396Ter
NM_001304717.5:c.1705C>T	NP_001291646.4:p.Gln569Ter
NM_001304718.2:c.595C>T	NP_001291647.1:p.Gln199Ter
NM_000314.8:c.1186C>T MANE Select	NP_000305.3:p.Gln396Ter