Canonical Allele Identifier: CA123660

Gene: AKT1

Linked Data

• ClinVar Variation Id: 13983
• ClinVar RCV Id: RCV000015017 ; RCV000015018 ; RCV000015019 ; RCV000031926 ; RCV000430173 ; RCV000419412 ; RCV000421850 ; RCV000436698 ; RCV000421009 ; RCV000427484 ; RCV000421696 ; RCV000438154 ; RCV000426386 ; RCV000440828 ; RCV000429060 ; RCV000443761 ; RCV000444311 ; RCV000434120 ; RCV000431237 ; RCV000439982 ; RCV000431723 ; RCV000445271 ; RCV000795313 ; RCV001813745
• dbSNP Id: rs121434592
• ExAC: 14:105246551 C / T
• gnomAD v2: 14-105246551-C-T
• COSMIC: COSM33765
• MyVariant Identifiers: chr14:g.105246551C>T (hg19) ; chr14:g.104780214C>T (hg38)
• CIViC: CA123660
• PubMed: PMID:17611497 ; PMID:18504432 ; PMID:18611285 ; PMID:19418217 ; PMID:19487299 ; PMID:19853286 ; PMID:20233444 ; PMID:20453058 ; PMID:21464312 ; PMID:21512767 ; PMID:21793738 ; PMID:22538770 ; PMID:22610119 ; PMID:22722201 ; PMID:22722839 ; PMID:22876373 ; PMID:22980975 ; PMID:23237847 ; PMID:23348505 ; PMID:23700467 ; PMID:23728071 ; PMID:23934607 ; PMID:24190505 ; PMID:24657128 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104780214C>T , CM000676.2:g.104780214C>T	GRCh38
NC_000014.8:g.105246551C>T , CM000676.1:g.105246551C>T	GRCh37
NC_000014.7:g.104317596C>T	NCBI36
NG_012188.1:g.20531G>A , LRG_721:g.20531G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554192.6:c.49G>A	ENSP00000450681.3:p.Glu17Lys
ENST00000554585.6:c.49G>A	ENSP00000481526.2:p.Glu17Lys
ENST00000555458.6:c.49G>A	ENSP00000451470.3:p.Glu17Lys
ENST00000553797.2:c.49G>A	ENSP00000507566.1:p.Glu17Lys
ENST00000554826.2:n.187G>A
ENST00000610370.2:n.187G>A
ENST00000682269.1:n.566G>A
ENST00000683722.1:c.49G>A	ENSP00000507879.1:p.Glu17Lys
ENST00000407796.7:c.49G>A	ENSP00000384293.2:p.Glu17Lys
ENST00000649815.2:c.49G>A MANE Select	ENSP00000497822.1:p.Glu17Lys
ENST00000349310.7:c.49G>A	ENSP00000270202.4:p.Glu17Lys
ENST00000402615.6:c.49G>A	ENSP00000385326.2:p.Glu17Lys
ENST00000407796.6:c.49G>A	ENSP00000384293.2:p.Glu17Lys
ENST00000554581.5:c.49G>A	ENSP00000451828.1:p.Glu17Lys
ENST00000554848.5:c.49G>A	ENSP00000451166.1:p.Glu17Lys
ENST00000555380.1:n.80G>A
ENST00000555528.5:c.49G>A	ENSP00000450688.1:p.Glu17Lys
ENST00000555926.1:c.49G>A	ENSP00000451824.1:p.Glu17Lys
NM_001014431.1:c.49G>A	NP_001014431.1:p.Glu17Lys
NM_001014432.1:c.49G>A , LRG_721t1:c.49G>A	NP_001014432.1:p.Glu17Lys
NM_005163.2:c.49G>A , LRG_721t2:c.49G>A	NP_005154.2:p.Glu17Lys
XM_005267401.1:c.49G>A	XP_005267458.1:p.Glu17Lys
XM_011536543.1:c.49G>A	XP_011534845.1:p.Glu17Lys
XM_011536544.1:c.49G>A	XP_011534846.1:p.Glu17Lys
XR_002957536.1:n.249G>A
NM_001014431.2:c.49G>A	NP_001014431.1:p.Glu17Lys
NM_001014432.2:c.49G>A	NP_001014432.1:p.Glu17Lys
NM_001382430.1:c.49G>A MANE Select	NP_001369359.1:p.Glu17Lys
NM_001382431.1:c.49G>A	NP_001369360.1:p.Glu17Lys
NM_001382432.1:c.49G>A	NP_001369361.1:p.Glu17Lys
NM_001382433.1:c.49G>A	NP_001369362.1:p.Glu17Lys