Canonical Allele Identifier: CA16619072

Gene: PTEN

Linked Data

• ClinVar Variation Id: 422815
• ClinVar RCV Id: RCV000480141 ; RCV000701845 ; RCV001010303
• dbSNP Id: rs1064796017
• gnomAD v3: 10-87965466-A-C
• gnomAD v4: 10-87965466-A-C
• MyVariant Identifiers: chr10:g.89725223A>C (hg19) ; chr10:g.87965466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965466A>C , CM000672.2:g.87965466A>C	GRCh38
NC_000010.10:g.89725223A>C , CM000672.1:g.89725223A>C	GRCh37
NC_000010.9:g.89715203A>C	NCBI36
NG_007466.2:g.107028A>C , LRG_311:g.107028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1299A>C	ENSP00000514759.2:p.Lys433Asn
ENST00000710265.1:c.*235A>C	ENSP00000518161.1:n.*235A>C
ENST00000688158.2:n.1941A>C
ENST00000688922.2:c.*1036A>C	ENSP00000508742.2:n.*1036A>C
ENST00000700021.1:c.1161A>C	ENSP00000514757.1:p.Lys387Asn
ENST00000700022.1:c.*545A>C	ENSP00000514758.1:n.*545A>C
ENST00000700023.1:n.2364A>C
ENST00000700024.1:n.2598A>C
ENST00000706954.1:c.1206A>C	ENSP00000516674.1:p.Lys402Asn
ENST00000706955.1:c.*1241A>C	ENSP00000516675.1:n.*1241A>C
ENST00000686459.1:c.*792A>C	ENSP00000508909.1:n.*792A>C
ENST00000688158.1:c.*1317A>C	ENSP00000509254.1:n.*1317A>C
ENST00000688308.1:c.1206A>C	ENSP00000508752.1:p.Lys402Asn
ENST00000688922.1:c.1127A>C
ENST00000693560.1:c.1725A>C	ENSP00000509861.1:p.Lys575Asn
ENST00000371953.8:c.1206A>C MANE Select	ENSP00000361021.3:p.Lys402Asn
ENST00000371953.7:c.1206A>C	ENSP00000361021.3:p.Lys402Asn
NM_000314.5:c.1206A>C	NP_000305.3:p.Lys402Asn
NM_000314.6:c.1206A>C	NP_000305.3:p.Lys402Asn
NM_001304717.2:c.1725A>C	NP_001291646.2:p.Lys575Asn
NM_001304718.1:c.615A>C	NP_001291647.1:p.Lys205Asn
XM_006717926.2:c.1161A>C	XP_006717989.1:p.Lys387Asn
XM_011539982.1:c.1110A>C	XP_011538284.1:p.Lys370Asn
XR_945791.1:n.1776A>C
NM_000314.7:c.1206A>C	NP_000305.3:p.Lys402Asn
NM_001304717.5:c.1725A>C	NP_001291646.4:p.Lys575Asn
NM_001304718.2:c.615A>C	NP_001291647.1:p.Lys205Asn
NM_000314.8:c.1206A>C MANE Select	NP_000305.3:p.Lys402Asn