Canonical Allele Identifier: CA930911447

Gene: PTEN

Linked Data

• dbSNP Id: rs1423108985
• gnomAD v3: 10-87967980-A-C
• gnomAD v4: 10-87967980-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967980A>C , CM000672.2:g.87967980A>C	GRCh38
NC_000010.10:g.89727737A>C , CM000672.1:g.89727737A>C	GRCh37
NC_000010.9:g.89717717A>C	NCBI36
NG_007466.2:g.109542A>C , LRG_311:g.109542A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2749A>C	ENSP00000518161.1:n.*2749A>C
ENST00000688158.2:n.4455A>C
ENST00000706954.1:c.*2508A>C	ENSP00000516674.1:n.*2508A>C
ENST00000706955.1:c.*3755A>C	ENSP00000516675.1:n.*3755A>C
ENST00000688158.1:c.*3831A>C	ENSP00000509254.1:n.*3831A>C
ENST00000693560.1:c.*2508A>C	ENSP00000509861.1:n.*2508A>C
ENST00000371953.8:c.*2508A>C MANE Select	ENSP00000361021.3:n.*2508A>C
ENST00000371953.7:c.*2508A>C	ENSP00000361021.3:n.*2508A>C
NM_000314.5:c.*2508A>C	NP_000305.3:n.*2508A>C
NM_000314.6:c.*2508A>C	NP_000305.3:n.*2508A>C
NM_001304717.2:c.*2508A>C	NP_001291646.2:n.*2508A>C
NM_001304718.1:c.*2508A>C	NP_001291647.1:n.*2508A>C
XM_006717926.2:c.*2508A>C	XP_006717989.1:n.*2508A>C
XM_011539982.1:c.*2508A>C	XP_011538284.1:n.*2508A>C
XR_945791.1:n.4290A>C
NM_000314.7:c.*2508A>C	NP_000305.3:n.*2508A>C
NM_001304717.5:c.*2508A>C	NP_001291646.4:n.*2508A>C
NM_001304718.2:c.*2508A>C	NP_001291647.1:n.*2508A>C
NM_000314.8:c.*2508A>C MANE Select	NP_000305.3:n.*2508A>C