Canonical Allele Identifier: CA377487425

Gene: PTEN

Linked Data

• dbSNP Id: rs1860739011
• gnomAD v4: 10-87965437-G-C
• MyVariant Identifiers: chr10:g.89725194G>C (hg19) ; chr10:g.87965437G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965437G>C , CM000672.2:g.87965437G>C	GRCh38
NC_000010.10:g.89725194G>C , CM000672.1:g.89725194G>C	GRCh37
NC_000010.9:g.89715174G>C	NCBI36
NG_007466.2:g.106999G>C , LRG_311:g.106999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1270G>C	ENSP00000514759.2:p.Asp424His
ENST00000710265.1:c.*206G>C	ENSP00000518161.1:n.*206G>C
ENST00000688158.2:n.1912G>C
ENST00000688922.2:c.*1007G>C	ENSP00000508742.2:n.*1007G>C
ENST00000700021.1:c.1132G>C	ENSP00000514757.1:p.Asp378His
ENST00000700022.1:c.*516G>C	ENSP00000514758.1:n.*516G>C
ENST00000700023.1:n.2335G>C
ENST00000700024.1:n.2569G>C
ENST00000706954.1:c.1177G>C	ENSP00000516674.1:p.Asp393His
ENST00000706955.1:c.*1212G>C	ENSP00000516675.1:n.*1212G>C
ENST00000686459.1:c.*763G>C	ENSP00000508909.1:n.*763G>C
ENST00000688158.1:c.*1288G>C	ENSP00000509254.1:n.*1288G>C
ENST00000688308.1:c.1177G>C	ENSP00000508752.1:p.Asp393His
ENST00000688922.1:c.1098G>C
ENST00000693560.1:c.1696G>C	ENSP00000509861.1:p.Asp566His
ENST00000371953.8:c.1177G>C MANE Select	ENSP00000361021.3:p.Asp393His
ENST00000371953.7:c.1177G>C	ENSP00000361021.3:p.Asp393His
NM_000314.5:c.1177G>C	NP_000305.3:p.Asp393His
NM_000314.6:c.1177G>C	NP_000305.3:p.Asp393His
NM_001304717.2:c.1696G>C	NP_001291646.2:p.Asp566His
NM_001304718.1:c.586G>C	NP_001291647.1:p.Asp196His
XM_006717926.2:c.1132G>C	XP_006717989.1:p.Asp378His
XM_011539982.1:c.1081G>C	XP_011538284.1:p.Asp361His
XR_945791.1:n.1747G>C
NM_000314.7:c.1177G>C	NP_000305.3:p.Asp393His
NM_001304717.5:c.1696G>C	NP_001291646.4:p.Asp566His
NM_001304718.2:c.586G>C	NP_001291647.1:p.Asp196His
NM_000314.8:c.1177G>C MANE Select	NP_000305.3:p.Asp393His