Canonical Allele Identifier: CA377785046

Gene: PTEN

Linked Data

• ClinVar Variation Id: 3069948
• ClinVar RCV Id: RCV004009980
• COSMIC: COSM5189
• MyVariant Identifiers: chr10:g.89685301A>C (hg19) ; chr10:g.87925544A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925544A>C , CM000672.2:g.87925544A>C	GRCh38
NC_000010.10:g.89685301A>C , CM000672.1:g.89685301A>C	GRCh37
NC_000010.9:g.89675281A>C	NCBI36
NG_007466.2:g.67106A>C , LRG_311:g.67106A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.196A>C	ENSP00000514759.2:p.Lys66Gln
ENST00000710265.1:c.196A>C	ENSP00000518161.1:p.Lys66Gln
ENST00000472832.3:c.196A>C	ENSP00000483066.2:p.Lys66Gln
ENST00000688158.2:n.931A>C
ENST00000688922.2:c.196A>C	ENSP00000508742.2:p.Lys66Gln
ENST00000700021.1:c.165-5502A>C	ENSP00000514757.1:n.165-5502A>C
ENST00000700022.1:c.196A>C	ENSP00000514758.1:p.Lys66Gln
ENST00000700029.1:c.30A>C
ENST00000706954.1:c.196A>C	ENSP00000516674.1:p.Lys66Gln
ENST00000706955.1:c.*231A>C	ENSP00000516675.1:n.*231A>C
ENST00000686459.1:c.196A>C	ENSP00000508909.1:p.Lys66Gln
ENST00000688158.1:c.*307A>C	ENSP00000509254.1:n.*307A>C
ENST00000688308.1:c.196A>C	ENSP00000508752.1:p.Lys66Gln
ENST00000688922.1:c.65A>C
ENST00000693560.1:c.715A>C	ENSP00000509861.1:p.Lys239Gln
ENST00000371953.8:c.196A>C MANE Select	ENSP00000361021.3:p.Lys66Gln
ENST00000371953.7:c.196A>C	ENSP00000361021.3:p.Lys66Gln
ENST00000498703.1:n.22A>C
ENST00000610634.1:c.94A>C	ENSP00000477517.1:p.Lys32Gln
NM_000314.5:c.196A>C	NP_000305.3:p.Lys66Gln
NM_000314.6:c.196A>C	NP_000305.3:p.Lys66Gln
NM_001304717.2:c.715A>C	NP_001291646.2:p.Lys239Gln
NM_001304718.1:c.-541-5502A>C	NP_001291647.1:n.-541-5502A>C
XM_006717926.2:c.165-5502A>C	XP_006717989.1:n.165-5502A>C
XM_011539981.1:c.196A>C	XP_011538283.1:p.Lys66Gln
XM_011539982.1:c.100A>C	XP_011538284.1:p.Lys34Gln
XR_945789.1:n.908A>C
XR_945790.1:n.908A>C
XR_945791.1:n.908A>C
NM_000314.7:c.196A>C	NP_000305.3:p.Lys66Gln
NM_001304717.5:c.715A>C	NP_001291646.4:p.Lys239Gln
NM_001304718.2:c.-541-5502A>C	NP_001291647.1:n.-541-5502A>C
NM_000314.8:c.196A>C MANE Select	NP_000305.3:p.Lys66Gln