Canonical Allele Identifier: CA394674829

Gene: ALG1 EEF2KMT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5084766T>G , CM000678.2:g.5084766T>G	GRCh38
NC_000016.9:g.5134767T>G , CM000678.1:g.5134767T>G	GRCh37
NC_000016.8:g.5074768T>G	NCBI36
NG_009202.1:g.17958T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1280T>G (ALG1) MANE Select	NP_061982.3:p.Phe427Cys
NM_201400.4:c.*866A>C (EEF2KMT) MANE Select	NP_958802.1:n.*866A>C
ENST00000262374.10:c.1280T>G (ALG1) MANE Select	ENSP00000262374.5:p.Phe427Cys
ENST00000427587.9:c.*866A>C (EEF2KMT) MANE Select	ENSP00000398502.3:n.*866A>C
NM_001289029.1:c.*866A>C (EEF2KMT)	NP_001275958.1:n.*866A>C
NM_001289029.2:c.*866A>C (EEF2KMT)	NP_001275958.1:n.*866A>C
NM_001330504.1:c.947T>G (ALG1)	NP_001317433.1:p.Phe316Cys
NM_001330504.2:c.947T>G (ALG1)	NP_001317433.1:p.Phe316Cys
NM_019109.4:c.1280T>G (ALG1)	NP_061982.3:p.Phe427Cys
NM_201400.3:c.*866A>C (EEF2KMT)	NP_958802.1:n.*866A>C
NM_201598.3:c.*866A>C (EEF2KMT)	NP_963892.1:n.*866A>C
NM_201598.4:c.*866A>C (EEF2KMT)	NP_963892.1:n.*866A>C
ENST00000262374.9:c.1280T>G (ALG1)	ENSP00000262374.4:p.Phe427Cys
ENST00000427587.8:c.*866A>C (EEF2KMT)	ENSP00000398502.3:n.*866A>C
ENST00000458008.8:c.*866A>C (EEF2KMT)	ENSP00000389710.3:n.*866A>C
ENST00000544428.1:c.947T>G (ALG1)	ENSP00000440019.1:p.Phe316Cys
ENST00000585436.5:c.*1367A>C (EEF2KMT)	ENSP00000464781.1:n.*1367A>C
ENST00000588623.5:c.947T>G (ALG1)	ENSP00000468118.1:p.Phe316Cys
ENST00000591822.5:c.*1181T>G (ALG1)	ENSP00000467865.1:n.*1181T>G
ENST00000592793.6:n.3416T>G (ALG1)
ENST00000650085.1:n.2104T>G (ALG1)
ENST00000682020.1:c.686T>G (ALG1)	ENSP00000508075.1:p.Phe229Cys
ENST00000682206.1:c.*375T>G (ALG1)	ENSP00000508285.1:n.*375T>G
ENST00000682314.1:n.2336T>G (ALG1)
ENST00000682327.1:c.752T>G (ALG1)	ENSP00000507058.1:p.Phe251Cys
ENST00000682349.1:n.3422T>G (ALG1)
ENST00000682703.1:n.5256T>G (ALG1)
ENST00000682797.1:c.*372T>G (ALG1)	ENSP00000507582.1:n.*372T>G
ENST00000682985.1:c.791T>G (ALG1)	ENSP00000507598.1:p.Phe264Cys
ENST00000683433.1:c.539T>G (ALG1)	ENSP00000507463.1:p.Phe180Cys
ENST00000683685.1:n.3162T>G (ALG1)
ENST00000683710.1:c.*1247T>G (ALG1)	ENSP00000506785.1:n.*1247T>G
ENST00000683739.1:c.947T>G (ALG1)	ENSP00000507002.1:p.Phe316Cys
ENST00000683772.1:n.2332T>G (ALG1)
ENST00000684008.1:c.1218T>G (ALG1)	ENSP00000507962.1:n.1218T>G
ENST00000684190.1:c.1241T>G (ALG1)	ENSP00000507554.1:p.Phe414Cys
ENST00000684335.1:c.1169T>G (ALG1)	ENSP00000508112.1:p.Phe390Cys
XM_005255157.4:c.*866A>C (EEF2KMT)	XP_005255214.1:n.*866A>C
XM_005255158.4:c.*866A>C (EEF2KMT)	XP_005255215.1:n.*866A>C
XM_011522404.2:c.*866A>C (EEF2KMT)	XP_011520706.1:n.*866A>C
XM_011522565.1:c.947T>G (ALG1)	XP_011520867.1:p.Phe316Cys
XM_017023457.2:c.1241T>G (ALG1)	XP_016878946.1:p.Phe414Cys
XM_017023458.1:c.947T>G (ALG1)	XP_016878947.1:p.Phe316Cys
XR_932882.3:n.1309T>G (ALG1)