Canonical Allele Identifier: CA10632809

Gene: PTEN

Linked Data

• ClinVar Variation Id: 301482
• ClinVar RCV Id: RCV000391577
• dbSNP Id: rs186996550
• gnomAD v2: 10-89727402-C-T
• gnomAD v3: 10-87967645-C-T
• gnomAD v4: 10-87967645-C-T
• MyVariant Identifiers: chr10:g.89727402C>T (hg19) ; chr10:g.87967645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967645C>T , CM000672.2:g.87967645C>T	GRCh38
NC_000010.10:g.89727402C>T , CM000672.1:g.89727402C>T	GRCh37
NC_000010.9:g.89717382C>T	NCBI36
NG_007466.2:g.109207C>T , LRG_311:g.109207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2414C>T	ENSP00000518161.1:n.*2414C>T
ENST00000688158.2:n.4120C>T
ENST00000706954.1:c.*2173C>T	ENSP00000516674.1:n.*2173C>T
ENST00000706955.1:c.*3420C>T	ENSP00000516675.1:n.*3420C>T
ENST00000688158.1:c.*3496C>T	ENSP00000509254.1:n.*3496C>T
ENST00000693560.1:c.*2173C>T	ENSP00000509861.1:n.*2173C>T
ENST00000371953.8:c.*2173C>T MANE Select	ENSP00000361021.3:n.*2173C>T
ENST00000371953.7:c.*2173C>T	ENSP00000361021.3:n.*2173C>T
NM_000314.5:c.*2173C>T	NP_000305.3:n.*2173C>T
NM_000314.6:c.*2173C>T	NP_000305.3:n.*2173C>T
NM_001304717.2:c.*2173C>T	NP_001291646.2:n.*2173C>T
NM_001304718.1:c.*2173C>T	NP_001291647.1:n.*2173C>T
XM_006717926.2:c.*2173C>T	XP_006717989.1:n.*2173C>T
XM_011539982.1:c.*2173C>T	XP_011538284.1:n.*2173C>T
XR_945791.1:n.3955C>T
NM_000314.7:c.*2173C>T	NP_000305.3:n.*2173C>T
NM_001304717.5:c.*2173C>T	NP_001291646.4:n.*2173C>T
NM_001304718.2:c.*2173C>T	NP_001291647.1:n.*2173C>T
NM_000314.8:c.*2173C>T MANE Select	NP_000305.3:n.*2173C>T