Canonical Allele Identifier: CA377482285

Gene: PTEN

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933130G>C , CM000672.2:g.87933130G>C	GRCh38
NC_000010.10:g.89692887G>C , CM000672.1:g.89692887G>C	GRCh37
NC_000010.9:g.89682867G>C	NCBI36
NG_007466.2:g.74692G>C , LRG_311:g.74692G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.371G>C	ENSP00000514759.2:p.Cys124Ser
ENST00000710265.1:c.371G>C	ENSP00000518161.1:p.Cys124Ser
ENST00000472832.3:c.371G>C	ENSP00000483066.2:p.Cys124Ser
ENST00000688158.2:n.1106G>C
ENST00000688922.2:c.*201G>C	ENSP00000508742.2:n.*201G>C
ENST00000700021.1:c.326G>C	ENSP00000514757.1:p.Cys109Ser
ENST00000700022.1:c.371G>C	ENSP00000514758.1:p.Cys124Ser
ENST00000700029.1:c.205G>C
ENST00000706954.1:c.371G>C	ENSP00000516674.1:p.Cys124Ser
ENST00000706955.1:c.*406G>C	ENSP00000516675.1:n.*406G>C
ENST00000686459.1:c.371G>C	ENSP00000508909.1:p.Cys124Ser
ENST00000688158.1:c.*482G>C	ENSP00000509254.1:n.*482G>C
ENST00000688308.1:c.371G>C	ENSP00000508752.1:p.Cys124Ser
ENST00000688922.1:c.292G>C
ENST00000693560.1:c.890G>C	ENSP00000509861.1:p.Cys297Ser
ENST00000371953.8:c.371G>C MANE Select	ENSP00000361021.3:p.Cys124Ser
ENST00000371953.7:c.371G>C	ENSP00000361021.3:p.Cys124Ser
ENST00000498703.1:n.197G>C
ENST00000610634.1:c.269G>C	ENSP00000477517.1:p.Cys90Ser
NM_000314.5:c.371G>C	NP_000305.3:p.Cys124Ser
NM_000314.6:c.371G>C	NP_000305.3:p.Cys124Ser
NM_001304717.2:c.890G>C	NP_001291646.2:p.Cys297Ser
NM_001304718.1:c.-380G>C	NP_001291647.1:n.-380G>C
XM_006717926.2:c.326G>C	XP_006717989.1:p.Cys109Ser
XM_011539981.1:c.371G>C	XP_011538283.1:p.Cys124Ser
XM_011539982.1:c.275G>C	XP_011538284.1:p.Cys92Ser
XR_945789.1:n.1083G>C
XR_945790.1:n.1083G>C
XR_945791.1:n.1083G>C
NM_000314.7:c.371G>C	NP_000305.3:p.Cys124Ser
NM_001304717.5:c.890G>C	NP_001291646.4:p.Cys297Ser
NM_001304718.2:c.-380G>C	NP_001291647.1:n.-380G>C
NM_000314.8:c.371G>C MANE Select	NP_000305.3:p.Cys124Ser