Canonical Allele Identifier: CA2203699588

Gene: ALG1 EEF2KMT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5084828C= , CM000678.2:g.5084828C=	GRCh38
NC_000016.9:g.5134829C= , CM000678.1:g.5134829C=	GRCh37
NC_000016.8:g.5074830C=	NCBI36
NG_009202.1:g.18020C=

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1342C= (ALG1) MANE Select	NP_061982.3:p.Arg448=
NM_201400.4:c.*804G= (EEF2KMT) MANE Select	NP_958802.1:n.*804G=
ENST00000262374.10:c.1342C= (ALG1) MANE Select	ENSP00000262374.5:p.Arg448=
ENST00000427587.9:c.*804G= (EEF2KMT) MANE Select	ENSP00000398502.3:n.*804G=
NM_001289029.1:c.*804G= (EEF2KMT)	NP_001275958.1:n.*804G=
NM_001289029.2:c.*804G= (EEF2KMT)	NP_001275958.1:n.*804G=
NM_001330504.1:c.1009C= (ALG1)	NP_001317433.1:p.Arg337=
NM_001330504.2:c.1009C= (ALG1)	NP_001317433.1:p.Arg337=
NM_019109.4:c.1342C= (ALG1)	NP_061982.3:p.Arg448=
NM_201400.3:c.*804G= (EEF2KMT)	NP_958802.1:n.*804G=
NM_201598.3:c.*804G= (EEF2KMT)	NP_963892.1:n.*804G=
NM_201598.4:c.*804G= (EEF2KMT)	NP_963892.1:n.*804G=
ENST00000262374.9:c.1342C= (ALG1)	ENSP00000262374.4:p.Arg448=
ENST00000427587.8:c.*804G= (EEF2KMT)	ENSP00000398502.3:n.*804G=
ENST00000458008.8:c.*804G= (EEF2KMT)	ENSP00000389710.3:n.*804G=
ENST00000544428.1:c.1009C= (ALG1)	ENSP00000440019.1:p.Arg337=
ENST00000585436.5:c.*1305G= (EEF2KMT)	ENSP00000464781.1:n.*1305G=
ENST00000588623.5:c.1009C= (ALG1)	ENSP00000468118.1:p.Arg337=
ENST00000591822.5:c.*1243C= (ALG1)	ENSP00000467865.1:n.*1243C=
ENST00000592793.6:n.3478C= (ALG1)
ENST00000650085.1:n.2166C= (ALG1)
ENST00000682020.1:c.748C= (ALG1)	ENSP00000508075.1:p.Arg250=
ENST00000682206.1:c.*437C= (ALG1)	ENSP00000508285.1:n.*437C=
ENST00000682314.1:n.2398C= (ALG1)
ENST00000682327.1:c.814C= (ALG1)	ENSP00000507058.1:p.Arg272=
ENST00000682349.1:n.3484C= (ALG1)
ENST00000682703.1:n.5318C= (ALG1)
ENST00000682797.1:c.*434C= (ALG1)	ENSP00000507582.1:n.*434C=
ENST00000682985.1:c.853C= (ALG1)	ENSP00000507598.1:p.Arg285=
ENST00000683433.1:c.601C= (ALG1)	ENSP00000507463.1:p.Arg201=
ENST00000683685.1:n.3224C= (ALG1)
ENST00000683710.1:c.*1309C= (ALG1)	ENSP00000506785.1:n.*1309C=
ENST00000683739.1:c.1009C= (ALG1)	ENSP00000507002.1:p.Arg337=
ENST00000683772.1:n.2394C= (ALG1)
ENST00000684008.1:c.1280C= (ALG1)	ENSP00000507962.1:n.1280C=
ENST00000684190.1:c.1303C= (ALG1)	ENSP00000507554.1:p.Arg435=
ENST00000684335.1:c.1231C= (ALG1)	ENSP00000508112.1:p.Arg411=
XM_005255157.4:c.*804G= (EEF2KMT)	XP_005255214.1:n.*804G=
XM_005255158.4:c.*804G= (EEF2KMT)	XP_005255215.1:n.*804G=
XM_011522404.2:c.*804G= (EEF2KMT)	XP_011520706.1:n.*804G=
XM_011522565.1:c.1009C= (ALG1)	XP_011520867.1:p.Arg337=
XM_017023457.2:c.1303C= (ALG1)	XP_016878946.1:p.Arg435=
XM_017023458.1:c.1009C= (ALG1)	XP_016878947.1:p.Arg337=
XR_932882.3:n.1371C= (ALG1)