Canonical Allele Identifier: CA377784978

Gene: PTEN

Linked Data

• dbSNP Id: rs1859801849
• gnomAD v4: 10-87925513-G-T
• COSMIC: COSM41770
• MyVariant Identifiers: chr10:g.89685270G>T (hg19) ; chr10:g.87925513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925513G>T , CM000672.2:g.87925513G>T	GRCh38
NC_000010.10:g.89685270G>T , CM000672.1:g.89685270G>T	GRCh37
NC_000010.9:g.89675250G>T	NCBI36
NG_007466.2:g.67075G>T , LRG_311:g.67075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.165G>T	ENSP00000514759.2:p.Arg55Ser
ENST00000710265.1:c.165G>T	ENSP00000518161.1:p.Arg55Ser
ENST00000472832.3:c.165G>T	ENSP00000483066.2:p.Arg55Ser
ENST00000688158.2:n.900G>T
ENST00000688922.2:c.165G>T	ENSP00000508742.2:p.Arg55Ser
ENST00000700021.1:c.165-5533G>T	ENSP00000514757.1:n.165-5533G>T
ENST00000700022.1:c.165G>T	ENSP00000514758.1:p.Arg55Ser
ENST00000706954.1:c.165G>T	ENSP00000516674.1:p.Arg55Ser
ENST00000706955.1:c.*200G>T	ENSP00000516675.1:n.*200G>T
ENST00000686459.1:c.165G>T	ENSP00000508909.1:p.Arg55Ser
ENST00000688158.1:c.*276G>T	ENSP00000509254.1:n.*276G>T
ENST00000688308.1:c.165G>T	ENSP00000508752.1:p.Arg55Ser
ENST00000688922.1:c.34G>T
ENST00000693560.1:c.684G>T	ENSP00000509861.1:p.Arg228Ser
ENST00000371953.8:c.165G>T MANE Select	ENSP00000361021.3:p.Arg55Ser
ENST00000371953.7:c.165G>T	ENSP00000361021.3:p.Arg55Ser
ENST00000610634.1:c.63G>T	ENSP00000477517.1:p.Arg21Ser
NM_000314.5:c.165G>T	NP_000305.3:p.Arg55Ser
NM_000314.6:c.165G>T	NP_000305.3:p.Arg55Ser
NM_001304717.2:c.684G>T	NP_001291646.2:p.Arg228Ser
NM_001304718.1:c.-541-5533G>T	NP_001291647.1:n.-541-5533G>T
XM_006717926.2:c.165-5533G>T	XP_006717989.1:n.165-5533G>T
XM_011539981.1:c.165G>T	XP_011538283.1:p.Arg55Ser
XM_011539982.1:c.69G>T	XP_011538284.1:p.Lys23Asn
XR_945789.1:n.877G>T
XR_945790.1:n.877G>T
XR_945791.1:n.877G>T
NM_000314.7:c.165G>T	NP_000305.3:p.Arg55Ser
NM_001304717.5:c.684G>T	NP_001291646.4:p.Arg228Ser
NM_001304718.2:c.-541-5533G>T	NP_001291647.1:n.-541-5533G>T
NM_000314.8:c.165G>T MANE Select	NP_000305.3:p.Arg55Ser