Canonical Allele Identifier: CA377484321

Gene: PTEN

Linked Data

• COSMIC: COSM1349560
• MyVariant Identifiers: chr10:g.89711906T>C (hg19) ; chr10:g.87952149T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952149T>C , CM000672.2:g.87952149T>C	GRCh38
NC_000010.10:g.89711906T>C , CM000672.1:g.89711906T>C	GRCh37
NC_000010.9:g.89701886T>C	NCBI36
NG_007466.2:g.93711T>C , LRG_311:g.93711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.524T>C	ENSP00000514759.2:p.Val175Ala
ENST00000710265.1:c.524T>C	ENSP00000518161.1:p.Val175Ala
ENST00000472832.3:c.524T>C	ENSP00000483066.2:p.Val175Ala
ENST00000688158.2:n.1259T>C
ENST00000688922.2:c.*354T>C	ENSP00000508742.2:n.*354T>C
ENST00000700021.1:c.479T>C	ENSP00000514757.1:p.Val160Ala
ENST00000700022.1:c.493-5704T>C	ENSP00000514758.1:n.493-5704T>C
ENST00000700023.1:n.1682T>C
ENST00000700024.1:n.1916T>C
ENST00000700025.1:n.1293T>C
ENST00000700029.1:c.358T>C
ENST00000706954.1:c.524T>C	ENSP00000516674.1:p.Val175Ala
ENST00000706955.1:c.*559T>C	ENSP00000516675.1:n.*559T>C
ENST00000686459.1:c.*110T>C	ENSP00000508909.1:n.*110T>C
ENST00000688158.1:c.*635T>C	ENSP00000509254.1:n.*635T>C
ENST00000688308.1:c.524T>C	ENSP00000508752.1:p.Val175Ala
ENST00000688922.1:c.445T>C
ENST00000693560.1:c.1043T>C	ENSP00000509861.1:p.Val348Ala
ENST00000371953.8:c.524T>C MANE Select	ENSP00000361021.3:p.Val175Ala
ENST00000371953.7:c.524T>C	ENSP00000361021.3:p.Val175Ala
NM_000314.5:c.524T>C	NP_000305.3:p.Val175Ala
NM_000314.6:c.524T>C	NP_000305.3:p.Val175Ala
NM_001304717.2:c.1043T>C	NP_001291646.2:p.Val348Ala
NM_001304718.1:c.-68T>C	NP_001291647.1:n.-68T>C
XM_006717926.2:c.479T>C	XP_006717989.1:p.Val160Ala
XM_011539981.1:c.524T>C	XP_011538283.1:p.Val175Ala
XM_011539982.1:c.428T>C	XP_011538284.1:p.Val143Ala
XR_945789.1:n.1395T>C
XR_945790.1:n.1512T>C
XR_945791.1:n.1205-5704T>C
NM_000314.7:c.524T>C	NP_000305.3:p.Val175Ala
NM_001304717.5:c.1043T>C	NP_001291646.4:p.Val348Ala
NM_001304718.2:c.-68T>C	NP_001291647.1:n.-68T>C
NM_000314.8:c.524T>C MANE Select	NP_000305.3:p.Val175Ala