Canonical Allele Identifier: CA7889999

Gene: ALG1

Linked Data

• ClinVar Variation Id: 1652283
• ClinVar RCV Id: RCV002156054
• dbSNP Id: rs757946127
• ExAC: 16:5128741 T / C
• gnomAD v2: 16-5128741-T-C
• gnomAD v3: 16-5078740-T-C
• gnomAD v4: 16-5078740-T-C
• MyVariant Identifiers: chr16:g.5128741T>C (hg19) ; chr16:g.5078740T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078740T>C , CM000678.2:g.5078740T>C	GRCh38
NC_000016.9:g.5128741T>C , CM000678.1:g.5128741T>C	GRCh37
NC_000016.8:g.5068742T>C	NCBI36
NG_009202.1:g.11932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2879-17T>C
ENST00000682020.1:c.147-17T>C	ENSP00000508075.1:n.147-17T>C
ENST00000682206.1:c.741-17T>C	ENSP00000508285.1:n.741-17T>C
ENST00000682314.1:n.785-17T>C
ENST00000682327.1:c.252-17T>C	ENSP00000507058.1:n.252-17T>C
ENST00000682349.1:n.2879-17T>C
ENST00000682703.1:n.2879-17T>C
ENST00000682797.1:c.741-17T>C	ENSP00000507582.1:n.741-17T>C
ENST00000682985.1:c.252-17T>C	ENSP00000507598.1:n.252-17T>C
ENST00000683433.1:c.36-17T>C	ENSP00000507463.1:n.36-17T>C
ENST00000683685.1:n.785-17T>C
ENST00000683710.1:c.*704-17T>C	ENSP00000506785.1:n.*704-17T>C
ENST00000683739.1:c.408-17T>C	ENSP00000507002.1:n.408-17T>C
ENST00000683772.1:n.785-17T>C
ENST00000684008.1:c.675-17T>C	ENSP00000507962.1:n.675-17T>C
ENST00000684190.1:c.741-17T>C	ENSP00000507554.1:n.741-17T>C
ENST00000684335.1:c.741-17T>C	ENSP00000508112.1:n.741-17T>C
ENST00000262374.10:c.741-17T>C MANE Select	ENSP00000262374.5:n.741-17T>C
ENST00000650085.1:n.1561-17T>C
ENST00000262374.9:c.741-17T>C	ENSP00000262374.4:n.741-17T>C
ENST00000544428.1:c.408-17T>C	ENSP00000440019.1:n.408-17T>C
ENST00000588623.5:c.408-17T>C	ENSP00000468118.1:n.408-17T>C
ENST00000591783.5:c.408-17T>C	ENSP00000464700.1:n.408-17T>C
ENST00000591822.5:c.*642-17T>C	ENSP00000467865.1:n.*642-17T>C
NM_019109.4:c.741-17T>C	NP_061982.3:n.741-17T>C
XM_011522565.1:c.408-17T>C	XP_011520867.1:n.408-17T>C
XR_932882.1:n.782-17T>C
NM_001330504.1:c.408-17T>C	NP_001317433.1:n.408-17T>C
XM_017023457.2:c.741-17T>C	XP_016878946.1:n.741-17T>C
XM_017023458.1:c.408-17T>C	XP_016878947.1:n.408-17T>C
XR_932882.3:n.766-17T>C
NM_019109.5:c.741-17T>C MANE Select	NP_061982.3:n.741-17T>C
NM_001330504.2:c.408-17T>C	NP_001317433.1:n.408-17T>C