Canonical Allele Identifier: CA000177

Gene: PTEN

Linked Data

• ClinVar Variation Id: 187827
• ClinVar RCV Id: RCV000185586 ; RCV000790887 ; RCV001264833
• dbSNP Id: rs794729664
• MyVariant Identifiers: chr10:g.89711927T>C (hg19) ; chr10:g.87952170T>C (hg38)
• ERepo: CA000177/MONDO:0017623/003
• PubMed: PMID:26443266

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952170T>C , CM000672.2:g.87952170T>C	GRCh38
NC_000010.10:g.89711927T>C , CM000672.1:g.89711927T>C	GRCh37
NC_000010.9:g.89701907T>C	NCBI36
NG_007466.2:g.93732T>C , LRG_311:g.93732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.545T>C	ENSP00000514759.2:p.Leu182Ser
ENST00000710265.1:c.545T>C	ENSP00000518161.1:p.Leu182Ser
ENST00000472832.3:c.545T>C	ENSP00000483066.2:p.Leu182Ser
ENST00000688158.2:n.1280T>C
ENST00000688922.2:c.*375T>C	ENSP00000508742.2:n.*375T>C
ENST00000700021.1:c.500T>C	ENSP00000514757.1:p.Leu167Ser
ENST00000700022.1:c.493-5683T>C	ENSP00000514758.1:n.493-5683T>C
ENST00000700023.1:n.1703T>C
ENST00000700024.1:n.1937T>C
ENST00000700025.1:n.1314T>C
ENST00000700029.1:c.379T>C
ENST00000706954.1:c.545T>C	ENSP00000516674.1:p.Leu182Ser
ENST00000706955.1:c.*580T>C	ENSP00000516675.1:n.*580T>C
ENST00000686459.1:c.*131T>C	ENSP00000508909.1:n.*131T>C
ENST00000688158.1:c.*656T>C	ENSP00000509254.1:n.*656T>C
ENST00000688308.1:c.545T>C	ENSP00000508752.1:p.Leu182Ser
ENST00000688922.1:c.466T>C
ENST00000693560.1:c.1064T>C	ENSP00000509861.1:p.Leu355Ser
ENST00000371953.8:c.545T>C MANE Select	ENSP00000361021.3:p.Leu182Ser
ENST00000371953.7:c.545T>C	ENSP00000361021.3:p.Leu182Ser
NM_000314.5:c.545T>C	NP_000305.3:p.Leu182Ser
NM_000314.6:c.545T>C	NP_000305.3:p.Leu182Ser
NM_001304717.2:c.1064T>C	NP_001291646.2:p.Leu355Ser
NM_001304718.1:c.-47T>C	NP_001291647.1:n.-47T>C
XM_006717926.2:c.500T>C	XP_006717989.1:p.Leu167Ser
XM_011539981.1:c.545T>C	XP_011538283.1:p.Leu182Ser
XM_011539982.1:c.449T>C	XP_011538284.1:p.Leu150Ser
XR_945789.1:n.1416T>C
XR_945790.1:n.1533T>C
XR_945791.1:n.1205-5683T>C
NM_000314.7:c.545T>C	NP_000305.3:p.Leu182Ser
NM_001304717.5:c.1064T>C	NP_001291646.4:p.Leu355Ser
NM_001304718.2:c.-47T>C	NP_001291647.1:n.-47T>C
NM_000314.8:c.545T>C MANE Select	NP_000305.3:p.Leu182Ser