Canonical Allele Identifier: CA394681942

Gene: ALG1

Linked Data

• gnomAD v4: 16-5079077-C-A
• MyVariant Identifiers: chr16:g.5129078C>A (hg19) ; chr16:g.5079077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5079077C>A , CM000678.2:g.5079077C>A	GRCh38
NC_000016.9:g.5129078C>A , CM000678.1:g.5129078C>A	GRCh37
NC_000016.8:g.5069079C>A	NCBI36
NG_009202.1:g.12269C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3012C>A
ENST00000682020.1:c.282C>A	ENSP00000508075.1:p.Phe94Leu
ENST00000682206.1:c.876C>A	ENSP00000508285.1:p.Phe292Leu
ENST00000682314.1:n.920C>A
ENST00000682327.1:c.373+199C>A	ENSP00000507058.1:n.373+199C>A
ENST00000682349.1:n.3014C>A
ENST00000682703.1:n.3199C>A
ENST00000682797.1:c.876C>A	ENSP00000507582.1:p.Phe292Leu
ENST00000682985.1:c.387C>A	ENSP00000507598.1:p.Phe129Leu
ENST00000683433.1:c.157+199C>A	ENSP00000507463.1:n.157+199C>A
ENST00000683685.1:n.1105C>A
ENST00000683710.1:c.*839C>A	ENSP00000506785.1:n.*839C>A
ENST00000683739.1:c.543C>A	ENSP00000507002.1:p.Phe181Leu
ENST00000683772.1:n.920C>A
ENST00000684008.1:c.810C>A	ENSP00000507962.1:p.Phe270Leu
ENST00000684190.1:c.862+199C>A	ENSP00000507554.1:n.862+199C>A
ENST00000684335.1:c.876C>A	ENSP00000508112.1:p.Phe292Leu
ENST00000262374.10:c.876C>A MANE Select	ENSP00000262374.5:p.Phe292Leu
ENST00000650085.1:n.1696C>A
ENST00000262374.9:c.876C>A	ENSP00000262374.4:p.Phe292Leu
ENST00000544428.1:c.543C>A	ENSP00000440019.1:p.Phe181Leu
ENST00000588623.5:c.543C>A	ENSP00000468118.1:p.Phe181Leu
ENST00000591822.5:c.*777C>A	ENSP00000467865.1:n.*777C>A
NM_019109.4:c.876C>A	NP_061982.3:p.Phe292Leu
XM_011522565.1:c.543C>A	XP_011520867.1:p.Phe181Leu
XR_932882.1:n.917C>A
NM_001330504.1:c.543C>A	NP_001317433.1:p.Phe181Leu
XM_017023457.2:c.862+199C>A	XP_016878946.1:n.862+199C>A
XM_017023458.1:c.543C>A	XP_016878947.1:p.Phe181Leu
XR_932882.3:n.901C>A
NM_019109.5:c.876C>A MANE Select	NP_061982.3:p.Phe292Leu
NM_001330504.2:c.543C>A	NP_001317433.1:p.Phe181Leu