Canonical Allele Identifier: CA377785062

Gene: PTEN

Linked Data

• ClinVar Variation Id: 481032
• ClinVar RCV Id: RCV000561145 ; RCV001028048
• dbSNP Id: rs876660634
• MyVariant Identifiers: chr10:g.89685308A>C (hg19) ; chr10:g.87925551A>C (hg38)
• PubMed: PMID:9467011 ; PMID:10555148 ; PMID:16704655 ; PMID:19457929 ; PMID:20926450 ; PMID:21659347 ; PMID:21956414 ; PMID:24778394 ; PMID:26246517

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925551A>C , CM000672.2:g.87925551A>C	GRCh38
NC_000010.10:g.89685308A>C , CM000672.1:g.89685308A>C	GRCh37
NC_000010.9:g.89675288A>C	NCBI36
NG_007466.2:g.67113A>C , LRG_311:g.67113A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.203A>C	ENSP00000514759.2:p.Tyr68Ser
ENST00000710265.1:c.203A>C	ENSP00000518161.1:p.Tyr68Ser
ENST00000472832.3:c.203A>C	ENSP00000483066.2:p.Tyr68Ser
ENST00000688158.2:n.938A>C
ENST00000688922.2:c.203A>C	ENSP00000508742.2:p.Tyr68Ser
ENST00000700021.1:c.165-5495A>C	ENSP00000514757.1:n.165-5495A>C
ENST00000700022.1:c.203A>C	ENSP00000514758.1:p.Tyr68Ser
ENST00000700029.1:c.37A>C
ENST00000706954.1:c.203A>C	ENSP00000516674.1:p.Tyr68Ser
ENST00000706955.1:c.*238A>C	ENSP00000516675.1:n.*238A>C
ENST00000686459.1:c.203A>C	ENSP00000508909.1:p.Tyr68Ser
ENST00000688158.1:c.*314A>C	ENSP00000509254.1:n.*314A>C
ENST00000688308.1:c.203A>C	ENSP00000508752.1:p.Tyr68Ser
ENST00000688922.1:c.72A>C
ENST00000693560.1:c.722A>C	ENSP00000509861.1:p.Tyr241Ser
ENST00000371953.8:c.203A>C MANE Select	ENSP00000361021.3:p.Tyr68Ser
ENST00000371953.7:c.203A>C	ENSP00000361021.3:p.Tyr68Ser
ENST00000498703.1:n.29A>C
ENST00000610634.1:c.101A>C	ENSP00000477517.1:p.Tyr34Ser
NM_000314.5:c.203A>C	NP_000305.3:p.Tyr68Ser
NM_000314.6:c.203A>C	NP_000305.3:p.Tyr68Ser
NM_001304717.2:c.722A>C	NP_001291646.2:p.Tyr241Ser
NM_001304718.1:c.-541-5495A>C	NP_001291647.1:n.-541-5495A>C
XM_006717926.2:c.165-5495A>C	XP_006717989.1:n.165-5495A>C
XM_011539981.1:c.203A>C	XP_011538283.1:p.Tyr68Ser
XM_011539982.1:c.107A>C	XP_011538284.1:p.Tyr36Ser
XR_945789.1:n.915A>C
XR_945790.1:n.915A>C
XR_945791.1:n.915A>C
NM_000314.7:c.203A>C	NP_000305.3:p.Tyr68Ser
NM_001304717.5:c.722A>C	NP_001291646.4:p.Tyr241Ser
NM_001304718.2:c.-541-5495A>C	NP_001291647.1:n.-541-5495A>C
NM_000314.8:c.203A>C MANE Select	NP_000305.3:p.Tyr68Ser