Canonical Allele Identifier: CA394681944

Gene: ALG1

Linked Data

• ClinVar Variation Id: 522808
• ClinVar RCV Id: RCV000625977
• dbSNP Id: rs1555452127
• MyVariant Identifiers: chr16:g.5129079T>C (hg19) ; chr16:g.5079078T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5079078T>C , CM000678.2:g.5079078T>C	GRCh38
NC_000016.9:g.5129079T>C , CM000678.1:g.5129079T>C	GRCh37
NC_000016.8:g.5069080T>C	NCBI36
NG_009202.1:g.12270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3013T>C
ENST00000682020.1:c.283T>C	ENSP00000508075.1:p.Ser95Pro
ENST00000682206.1:c.877T>C	ENSP00000508285.1:p.Ser293Pro
ENST00000682314.1:n.921T>C
ENST00000682327.1:c.373+200T>C	ENSP00000507058.1:n.373+200T>C
ENST00000682349.1:n.3015T>C
ENST00000682703.1:n.3200T>C
ENST00000682797.1:c.877T>C	ENSP00000507582.1:p.Ser293Pro
ENST00000682985.1:c.388T>C	ENSP00000507598.1:p.Ser130Pro
ENST00000683433.1:c.157+200T>C	ENSP00000507463.1:n.157+200T>C
ENST00000683685.1:n.1106T>C
ENST00000683710.1:c.*840T>C	ENSP00000506785.1:n.*840T>C
ENST00000683739.1:c.544T>C	ENSP00000507002.1:p.Ser182Pro
ENST00000683772.1:n.921T>C
ENST00000684008.1:c.811T>C	ENSP00000507962.1:p.Ser271Pro
ENST00000684190.1:c.862+200T>C	ENSP00000507554.1:n.862+200T>C
ENST00000684335.1:c.877T>C	ENSP00000508112.1:p.Ser293Pro
ENST00000262374.10:c.877T>C MANE Select	ENSP00000262374.5:p.Ser293Pro
ENST00000650085.1:n.1697T>C
ENST00000262374.9:c.877T>C	ENSP00000262374.4:p.Ser293Pro
ENST00000544428.1:c.544T>C	ENSP00000440019.1:p.Ser182Pro
ENST00000588623.5:c.544T>C	ENSP00000468118.1:p.Ser182Pro
ENST00000591822.5:c.*778T>C	ENSP00000467865.1:n.*778T>C
NM_019109.4:c.877T>C	NP_061982.3:p.Ser293Pro
XM_011522565.1:c.544T>C	XP_011520867.1:p.Ser182Pro
XR_932882.1:n.918T>C
NM_001330504.1:c.544T>C	NP_001317433.1:p.Ser182Pro
XM_017023457.2:c.862+200T>C	XP_016878946.1:n.862+200T>C
XM_017023458.1:c.544T>C	XP_016878947.1:p.Ser182Pro
XR_932882.3:n.902T>C
NM_019109.5:c.877T>C MANE Select	NP_061982.3:p.Ser293Pro
NM_001330504.2:c.544T>C	NP_001317433.1:p.Ser182Pro