Canonical Allele Identifier: CA594924251

Gene: PTEN

Linked Data

• dbSNP Id: rs1300973211
• gnomAD v2: 10-89727765-A-C
• gnomAD v3: 10-87968008-A-C
• gnomAD v4: 10-87968008-A-C
• MyVariant Identifiers: chr10:g.89727765A>C (hg19) ; chr10:g.87968008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87968008A>C , CM000672.2:g.87968008A>C	GRCh38
NC_000010.10:g.89727765A>C , CM000672.1:g.89727765A>C	GRCh37
NC_000010.9:g.89717745A>C	NCBI36
NG_007466.2:g.109570A>C , LRG_311:g.109570A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2777A>C	ENSP00000518161.1:n.*2777A>C
ENST00000688158.2:n.4483A>C
ENST00000706954.1:c.*2536A>C	ENSP00000516674.1:n.*2536A>C
ENST00000706955.1:c.*3783A>C	ENSP00000516675.1:n.*3783A>C
ENST00000688158.1:c.*3859A>C	ENSP00000509254.1:n.*3859A>C
ENST00000693560.1:c.*2536A>C	ENSP00000509861.1:n.*2536A>C
ENST00000371953.8:c.*2536A>C MANE Select	ENSP00000361021.3:n.*2536A>C
ENST00000371953.7:c.*2536A>C	ENSP00000361021.3:n.*2536A>C
NM_000314.5:c.*2536A>C	NP_000305.3:n.*2536A>C
NM_000314.6:c.*2536A>C	NP_000305.3:n.*2536A>C
NM_001304717.2:c.*2536A>C	NP_001291646.2:n.*2536A>C
NM_001304718.1:c.*2536A>C	NP_001291647.1:n.*2536A>C
XM_006717926.2:c.*2536A>C	XP_006717989.1:n.*2536A>C
XM_011539982.1:c.*2536A>C	XP_011538284.1:n.*2536A>C
XR_945791.1:n.4318A>C
NM_000314.7:c.*2536A>C	NP_000305.3:n.*2536A>C
NM_001304717.5:c.*2536A>C	NP_001291646.4:n.*2536A>C
NM_001304718.2:c.*2536A>C	NP_001291647.1:n.*2536A>C
NM_000314.8:c.*2536A>C MANE Select	NP_000305.3:n.*2536A>C