Canonical Allele Identifier: CA394673839

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5132605T>G (hg19) ; chr16:g.5082604T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082604T>G , CM000678.2:g.5082604T>G	GRCh38
NC_000016.9:g.5132605T>G , CM000678.1:g.5132605T>G	GRCh37
NC_000016.8:g.5072606T>G	NCBI36
NG_009202.1:g.15796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3254T>G
ENST00000682020.1:c.524T>G	ENSP00000508075.1:p.Leu175Arg
ENST00000682206.1:c.*213T>G	ENSP00000508285.1:n.*213T>G
ENST00000682314.1:n.1166T>G
ENST00000682327.1:c.590T>G	ENSP00000507058.1:p.Leu197Arg
ENST00000682349.1:n.3260T>G
ENST00000682703.1:n.4086T>G
ENST00000682797.1:c.*210T>G	ENSP00000507582.1:n.*210T>G
ENST00000682985.1:c.629T>G	ENSP00000507598.1:p.Leu210Arg
ENST00000683433.1:c.377T>G	ENSP00000507463.1:p.Leu126Arg
ENST00000683685.1:n.1992T>G
ENST00000683710.1:c.*1085T>G	ENSP00000506785.1:n.*1085T>G
ENST00000683739.1:c.785T>G	ENSP00000507002.1:p.Leu262Arg
ENST00000683772.1:n.1162T>G
ENST00000684008.1:c.1056T>G	ENSP00000507962.1:n.1056T>G
ENST00000684190.1:c.1079T>G	ENSP00000507554.1:p.Leu360Arg
ENST00000684335.1:c.1007T>G	ENSP00000508112.1:p.Leu336Arg
ENST00000262374.10:c.1118T>G MANE Select	ENSP00000262374.5:p.Leu373Arg
ENST00000650085.1:n.1942T>G
ENST00000262374.9:c.1118T>G	ENSP00000262374.4:p.Leu373Arg
ENST00000544428.1:c.785T>G	ENSP00000440019.1:p.Leu262Arg
ENST00000588623.5:c.785T>G	ENSP00000468118.1:p.Leu262Arg
ENST00000591822.5:c.*1019T>G	ENSP00000467865.1:n.*1019T>G
NM_019109.4:c.1118T>G	NP_061982.3:p.Leu373Arg
XM_011522565.1:c.785T>G	XP_011520867.1:p.Leu262Arg
NM_001330504.1:c.785T>G	NP_001317433.1:p.Leu262Arg
XM_017023457.2:c.1079T>G	XP_016878946.1:p.Leu360Arg
XM_017023458.1:c.785T>G	XP_016878947.1:p.Leu262Arg
XR_932882.3:n.1147T>G
NM_019109.5:c.1118T>G MANE Select	NP_061982.3:p.Leu373Arg
NM_001330504.2:c.785T>G	NP_001317433.1:p.Leu262Arg