Canonical Allele Identifier: CA394673976

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082668C>G , CM000678.2:g.5082668C>G	GRCh38
NC_000016.9:g.5132669C>G , CM000678.1:g.5132669C>G	GRCh37
NC_000016.8:g.5072670C>G	NCBI36
NG_009202.1:g.15860C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1182C>G MANE Select	NP_061982.3:p.Phe394Leu
ENST00000262374.10:c.1182C>G MANE Select	ENSP00000262374.5:p.Phe394Leu
NM_001330504.1:c.849C>G	NP_001317433.1:p.Phe283Leu
NM_001330504.2:c.849C>G	NP_001317433.1:p.Phe283Leu
NM_019109.4:c.1182C>G	NP_061982.3:p.Phe394Leu
ENST00000262374.9:c.1182C>G	ENSP00000262374.4:p.Phe394Leu
ENST00000544428.1:c.849C>G	ENSP00000440019.1:p.Phe283Leu
ENST00000588623.5:c.849C>G	ENSP00000468118.1:p.Phe283Leu
ENST00000591822.5:c.*1083C>G	ENSP00000467865.1:n.*1083C>G
ENST00000592793.6:n.3318C>G
ENST00000650085.1:n.2006C>G
ENST00000682020.1:c.588C>G	ENSP00000508075.1:p.Phe196Leu
ENST00000682206.1:c.*277C>G	ENSP00000508285.1:n.*277C>G
ENST00000682314.1:n.1230C>G
ENST00000682327.1:c.654C>G	ENSP00000507058.1:p.Phe218Leu
ENST00000682349.1:n.3324C>G
ENST00000682703.1:n.4150C>G
ENST00000682797.1:c.*274C>G	ENSP00000507582.1:n.*274C>G
ENST00000682985.1:c.693C>G	ENSP00000507598.1:p.Phe231Leu
ENST00000683433.1:c.441C>G	ENSP00000507463.1:p.Phe147Leu
ENST00000683685.1:n.2056C>G
ENST00000683710.1:c.*1149C>G	ENSP00000506785.1:n.*1149C>G
ENST00000683739.1:c.849C>G	ENSP00000507002.1:p.Phe283Leu
ENST00000683772.1:n.1226C>G
ENST00000684008.1:c.1120C>G	ENSP00000507962.1:n.1120C>G
ENST00000684190.1:c.1143C>G	ENSP00000507554.1:p.Phe381Leu
ENST00000684335.1:c.1071C>G	ENSP00000508112.1:p.Phe357Leu
XM_011522565.1:c.849C>G	XP_011520867.1:p.Phe283Leu
XM_017023457.2:c.1143C>G	XP_016878946.1:p.Phe381Leu
XM_017023458.1:c.849C>G	XP_016878947.1:p.Phe283Leu
XR_932882.3:n.1211C>G