Canonical Allele Identifier: CA123660
Gene: AKT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13983
ClinVar RCV Id: RCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000419412 RCV000421009 RCV000421696 RCV000421850 RCV000426386 RCV000427484 RCV000429060 RCV000430173 RCV000431237 RCV000431723 RCV000434120 RCV000436698 RCV000438154 RCV000439982 RCV000440828 RCV000443761 RCV000444311 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
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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
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