Canonical Allele Identifier: CA130580

Gene: AKT3

Linked Data

• ClinVar Variation Id: 39814
• ClinVar RCV Id: RCV000033035 ; RCV000415230 ; RCV000622431 ; RCV001532107 ; RCV002251942 ; RCV004532479
• dbSNP Id: rs587776935
• MyVariant Identifiers: chr1:g.243668598G>A (hg19) ; chr1:g.243505296G>A (hg38)
• PubMed: PMID:10208883 ; PMID:15627943 ; PMID:21159799 ; PMID:21800092 ; PMID:22228622 ; PMID:22729224 ; PMID:25523067 ; PMID:27854409 ; PMID:28135719 ; PMID:28190287

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243505296G>A , CM000663.2:g.243505296G>A	GRCh38
NC_000001.10:g.243668598G>A , CM000663.1:g.243668598G>A	GRCh37
NC_000001.9:g.241735221G>A	NCBI36
NG_029764.1:g.343289C>T
NG_029764.2:g.350784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263826.12:c.1393C>T	ENSP00000263826.5:p.Arg465Trp
ENST00000366539.6:c.1324C>T	ENSP00000355497.2:p.Arg442Trp
ENST00000672460.1:c.1150C>T	ENSP00000499842.1:p.Arg384Trp
ENST00000672578.1:c.1210C>T	ENSP00000500597.1:p.Arg404Trp
ENST00000673466.1:c.1393C>T MANE Select	ENSP00000500582.1:p.Arg465Trp
ENST00000679831.1:n.2404C>T
ENST00000680056.1:c.1267C>T	ENSP00000505337.1:p.Arg423Trp
ENST00000680118.1:c.1393C>T	ENSP00000505276.1:p.Arg465Trp
ENST00000681055.1:n.281C>T
ENST00000681794.1:c.1496C>T	ENSP00000506399.1:n.1496C>T
ENST00000263826.9:c.1393C>T	ENSP00000263826.5:p.Arg465Trp
ENST00000336199.9:c.1355-5510C>T	ENSP00000336943.5:n.1355-5510C>T
ENST00000366539.5:c.1393C>T	ENSP00000355497.1:p.Arg465Trp
ENST00000366540.5:c.1355-5510C>T	ENSP00000355498.1:n.1355-5510C>T
NM_001206729.1:c.1355-5510C>T	NP_001193658.1:n.1355-5510C>T
NM_005465.4:c.1393C>T	NP_005456.1:p.Arg465Trp
NM_181690.2:c.1355-5510C>T	NP_859029.1:n.1355-5510C>T
XM_005272994.3:c.1393C>T	XP_005273051.1:p.Arg465Trp
XM_005272995.2:c.1393C>T	XP_005273052.1:p.Arg465Trp
XM_005272997.3:c.1210C>T	XP_005273054.1:p.Arg404Trp
XM_011544011.1:c.1267C>T	XP_011542313.1:p.Arg423Trp
XM_011544014.1:c.703C>T	XP_011542316.1:p.Arg235Trp
XM_011544014.2:c.703C>T	XP_011542316.1:p.Arg235Trp
XM_016999985.1:c.1210C>T	XP_016855474.1:p.Arg404Trp
NM_005465.5:c.1393C>T	NP_005456.1:p.Arg465Trp
NM_001370074.1:c.1393C>T	NP_001357003.1:p.Arg465Trp
NM_005465.7:c.1393C>T MANE Select	NP_005456.1:p.Arg465Trp
NM_001206729.2:c.1355-5510C>T	NP_001193658.1:n.1355-5510C>T