Canonical Allele Identifier: CA1926177632

Gene: PTEN

Linked Data

• dbSNP Id: rs1860812780
• gnomAD v4: 10-87967990-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967990G>A , CM000672.2:g.87967990G>A	GRCh38
NC_000010.10:g.89727747G>A , CM000672.1:g.89727747G>A	GRCh37
NC_000010.9:g.89717727G>A	NCBI36
NG_007466.2:g.109552G>A , LRG_311:g.109552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2759G>A	ENSP00000518161.1:n.*2759G>A
ENST00000688158.2:n.4465G>A
ENST00000706954.1:c.*2518G>A	ENSP00000516674.1:n.*2518G>A
ENST00000706955.1:c.*3765G>A	ENSP00000516675.1:n.*3765G>A
ENST00000688158.1:c.*3841G>A	ENSP00000509254.1:n.*3841G>A
ENST00000693560.1:c.*2518G>A	ENSP00000509861.1:n.*2518G>A
ENST00000371953.8:c.*2518G>A MANE Select	ENSP00000361021.3:n.*2518G>A
ENST00000371953.7:c.*2518G>A	ENSP00000361021.3:n.*2518G>A
NM_000314.5:c.*2518G>A	NP_000305.3:n.*2518G>A
NM_000314.6:c.*2518G>A	NP_000305.3:n.*2518G>A
NM_001304717.2:c.*2518G>A	NP_001291646.2:n.*2518G>A
NM_001304718.1:c.*2518G>A	NP_001291647.1:n.*2518G>A
XM_006717926.2:c.*2518G>A	XP_006717989.1:n.*2518G>A
XM_011539982.1:c.*2518G>A	XP_011538284.1:n.*2518G>A
XR_945791.1:n.4300G>A
NM_000314.7:c.*2518G>A	NP_000305.3:n.*2518G>A
NM_001304717.5:c.*2518G>A	NP_001291646.4:n.*2518G>A
NM_001304718.2:c.*2518G>A	NP_001291647.1:n.*2518G>A
NM_000314.8:c.*2518G>A MANE Select	NP_000305.3:n.*2518G>A