Canonical Allele Identifier: CA377484870

Gene: PTEN

Linked Data

• ClinVar Variation Id: 536552
• ClinVar RCV Id: RCV000645059 ; RCV003162921
• dbSNP Id: rs1554825190
• gnomAD v4: 10-87957910-C-T
• MyVariant Identifiers: chr10:g.89717667C>T (hg19) ; chr10:g.87957910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957910C>T , CM000672.2:g.87957910C>T	GRCh38
NC_000010.10:g.89717667C>T , CM000672.1:g.89717667C>T	GRCh37
NC_000010.9:g.89707647C>T	NCBI36
NG_007466.2:g.99472C>T , LRG_311:g.99472C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.692C>T	ENSP00000514759.2:p.Pro231Leu
ENST00000710265.1:c.692C>T	ENSP00000518161.1:p.Pro231Leu
ENST00000472832.3:c.692C>T	ENSP00000483066.2:p.Pro231Leu
ENST00000688158.2:n.1427C>T
ENST00000688922.2:c.*522C>T	ENSP00000508742.2:n.*522C>T
ENST00000700021.1:c.647C>T	ENSP00000514757.1:p.Pro216Leu
ENST00000700022.1:c.*31C>T	ENSP00000514758.1:n.*31C>T
ENST00000700023.1:n.1850C>T
ENST00000700024.1:n.2084C>T
ENST00000700025.1:n.1461C>T
ENST00000700026.1:n.329C>T
ENST00000700029.1:c.526C>T
ENST00000706954.1:c.692C>T	ENSP00000516674.1:p.Pro231Leu
ENST00000706955.1:c.*727C>T	ENSP00000516675.1:n.*727C>T
ENST00000686459.1:c.*278C>T	ENSP00000508909.1:n.*278C>T
ENST00000688158.1:c.*803C>T	ENSP00000509254.1:n.*803C>T
ENST00000688308.1:c.692C>T	ENSP00000508752.1:p.Pro231Leu
ENST00000688922.1:c.613C>T
ENST00000693560.1:c.1211C>T	ENSP00000509861.1:p.Pro404Leu
ENST00000371953.8:c.692C>T MANE Select	ENSP00000361021.3:p.Pro231Leu
ENST00000371953.7:c.692C>T	ENSP00000361021.3:p.Pro231Leu
ENST00000472832.2:c.119C>T	ENSP00000483066.1:p.Pro40Leu
NM_000314.5:c.692C>T	NP_000305.3:p.Pro231Leu
NM_000314.6:c.692C>T	NP_000305.3:p.Pro231Leu
NM_001304717.2:c.1211C>T	NP_001291646.2:p.Pro404Leu
NM_001304718.1:c.101C>T	NP_001291647.1:p.Pro34Leu
XM_006717926.2:c.647C>T	XP_006717989.1:p.Pro216Leu
XM_011539981.1:c.692C>T	XP_011538283.1:p.Pro231Leu
XM_011539982.1:c.596C>T	XP_011538284.1:p.Pro199Leu
XR_945791.1:n.1262C>T
NM_000314.7:c.692C>T	NP_000305.3:p.Pro231Leu
NM_001304717.5:c.1211C>T	NP_001291646.4:p.Pro404Leu
NM_001304718.2:c.101C>T	NP_001291647.1:p.Pro34Leu
NM_000314.8:c.692C>T MANE Select	NP_000305.3:p.Pro231Leu