Canonical Allele Identifier: CA000622

Gene: PTEN

Linked Data

• ClinVar Variation Id: 195060
• ClinVar RCV Id: RCV000175579
• dbSNP Id: rs794727243
• MyVariant Identifiers: chr10:g.89653790C>A (hg19) ; chr10:g.87894033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894033C>A , CM000672.2:g.87894033C>A	GRCh38
NC_000010.10:g.89653790C>A , CM000672.1:g.89653790C>A	GRCh37
NC_000010.9:g.89643770C>A	NCBI36
NG_007466.2:g.35595C>A , LRG_311:g.35595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.88C>A	ENSP00000514759.2:p.Pro30Thr
ENST00000710265.1:c.88C>A	ENSP00000518161.1:p.Pro30Thr
ENST00000472832.3:c.88C>A	ENSP00000483066.2:p.Pro30Thr
ENST00000688158.2:n.899+13595C>A
ENST00000688922.2:c.88C>A	ENSP00000508742.2:p.Pro30Thr
ENST00000700021.1:c.88C>A	ENSP00000514757.1:p.Pro30Thr
ENST00000700022.1:c.88C>A	ENSP00000514758.1:p.Pro30Thr
ENST00000706954.1:c.88C>A	ENSP00000516674.1:p.Pro30Thr
ENST00000706955.1:c.*123C>A	ENSP00000516675.1:n.*123C>A
ENST00000686459.1:c.88C>A	ENSP00000508909.1:p.Pro30Thr
ENST00000688158.1:c.*275+13595C>A	ENSP00000509254.1:n.*275+13595C>A
ENST00000688308.1:c.88C>A	ENSP00000508752.1:p.Pro30Thr
ENST00000693560.1:c.607C>A	ENSP00000509861.1:p.Pro203Thr
ENST00000371953.8:c.88C>A MANE Select	ENSP00000361021.3:p.Pro30Thr
ENST00000371953.7:c.88C>A	ENSP00000361021.3:p.Pro30Thr
ENST00000462694.1:n.90C>A
ENST00000610634.1:c.-15C>A	ENSP00000477517.1:n.-15C>A
NM_000314.5:c.88C>A	NP_000305.3:p.Pro30Thr
NM_000314.6:c.88C>A	NP_000305.3:p.Pro30Thr
NM_001304717.2:c.607C>A	NP_001291646.2:p.Pro203Thr
NM_001304718.1:c.-618C>A	NP_001291647.1:n.-618C>A
XM_006717926.2:c.88C>A	XP_006717989.1:p.Pro30Thr
XM_011539981.1:c.88C>A	XP_011538283.1:p.Pro30Thr
XM_011539982.1:c.68+13595C>A	XP_011538284.1:n.68+13595C>A
XR_945789.1:n.800C>A
XR_945790.1:n.800C>A
XR_945791.1:n.800C>A
NM_000314.7:c.88C>A	NP_000305.3:p.Pro30Thr
NM_001304717.5:c.607C>A	NP_001291646.4:p.Pro203Thr
NM_001304718.2:c.-618C>A	NP_001291647.1:n.-618C>A
NM_000314.8:c.88C>A MANE Select	NP_000305.3:p.Pro30Thr