Canonical Allele Identifier: CA7890003

Gene: ALG1

Linked Data

• ClinVar Variation Id: 2069952
• ClinVar RCV Id: RCV002958956 ; RCV002966763
• dbSNP Id: rs776990267
• ExAC: 16:5128773 C / G
• gnomAD v2: 16-5128773-C-G
• gnomAD v3: 16-5078772-C-G
• gnomAD v4: 16-5078772-C-G
• MyVariant Identifiers: chr16:g.5128773C>G (hg19) ; chr16:g.5078772C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078772C>G , CM000678.2:g.5078772C>G	GRCh38
NC_000016.9:g.5128773C>G , CM000678.1:g.5128773C>G	GRCh37
NC_000016.8:g.5068774C>G	NCBI36
NG_009202.1:g.11964C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2894C>G
ENST00000682020.1:c.162C>G	ENSP00000508075.1:p.Asp54Glu
ENST00000682206.1:c.756C>G	ENSP00000508285.1:p.Asp252Glu
ENST00000682314.1:n.800C>G
ENST00000682327.1:c.267C>G	ENSP00000507058.1:p.Asp89Glu
ENST00000682349.1:n.2894C>G
ENST00000682703.1:n.2894C>G
ENST00000682797.1:c.756C>G	ENSP00000507582.1:p.Asp252Glu
ENST00000682985.1:c.267C>G	ENSP00000507598.1:p.Asp89Glu
ENST00000683433.1:c.51C>G	ENSP00000507463.1:p.Asp17Glu
ENST00000683685.1:n.800C>G
ENST00000683710.1:c.*719C>G	ENSP00000506785.1:n.*719C>G
ENST00000683739.1:c.423C>G	ENSP00000507002.1:p.Asp141Glu
ENST00000683772.1:n.800C>G
ENST00000684008.1:c.690C>G	ENSP00000507962.1:p.Asp230Glu
ENST00000684190.1:c.756C>G	ENSP00000507554.1:p.Asp252Glu
ENST00000684335.1:c.756C>G	ENSP00000508112.1:p.Asp252Glu
ENST00000262374.10:c.756C>G MANE Select	ENSP00000262374.5:p.Asp252Glu
ENST00000650085.1:n.1576C>G
ENST00000262374.9:c.756C>G	ENSP00000262374.4:p.Asp252Glu
ENST00000544428.1:c.423C>G	ENSP00000440019.1:p.Asp141Glu
ENST00000588623.5:c.423C>G	ENSP00000468118.1:p.Asp141Glu
ENST00000591783.5:c.423C>G	ENSP00000464700.1:p.Asp141Glu
ENST00000591822.5:c.*657C>G	ENSP00000467865.1:n.*657C>G
NM_019109.4:c.756C>G	NP_061982.3:p.Asp252Glu
XM_011522565.1:c.423C>G	XP_011520867.1:p.Asp141Glu
XR_932882.1:n.797C>G
NM_001330504.1:c.423C>G	NP_001317433.1:p.Asp141Glu
XM_017023457.2:c.756C>G	XP_016878946.1:p.Asp252Glu
XM_017023458.1:c.423C>G	XP_016878947.1:p.Asp141Glu
XR_932882.3:n.781C>G
NM_019109.5:c.756C>G MANE Select	NP_061982.3:p.Asp252Glu
NM_001330504.2:c.423C>G	NP_001317433.1:p.Asp141Glu