Canonical Allele Identifier: CA394672534

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5130949A>T (hg19) ; chr16:g.5080948A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080948A>T , CM000678.2:g.5080948A>T	GRCh38
NC_000016.9:g.5130949A>T , CM000678.1:g.5130949A>T	GRCh37
NC_000016.8:g.5070950A>T	NCBI36
NG_009202.1:g.14140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3100A>T
ENST00000682020.1:c.370A>T	ENSP00000508075.1:p.Lys124Ter
ENST00000682206.1:c.*56A>T	ENSP00000508285.1:n.*56A>T
ENST00000682314.1:n.1012A>T
ENST00000682327.1:c.436A>T	ENSP00000507058.1:p.Lys146Ter
ENST00000682349.1:n.3106A>T
ENST00000682703.1:n.3932A>T
ENST00000682797.1:c.*56A>T	ENSP00000507582.1:n.*56A>T
ENST00000682985.1:c.475A>T	ENSP00000507598.1:p.Lys159Ter
ENST00000683433.1:c.220A>T	ENSP00000507463.1:p.Lys74Ter
ENST00000683685.1:n.1838A>T
ENST00000683710.1:c.*931A>T	ENSP00000506785.1:n.*931A>T
ENST00000683739.1:c.631A>T	ENSP00000507002.1:p.Lys211Ter
ENST00000683772.1:n.1008A>T
ENST00000684008.1:c.902A>T	ENSP00000507962.1:n.902A>T
ENST00000684190.1:c.925A>T	ENSP00000507554.1:p.Lys309Ter
ENST00000684335.1:c.961+1141A>T	ENSP00000508112.1:n.961+1141A>T
ENST00000262374.10:c.964A>T MANE Select	ENSP00000262374.5:p.Lys322Ter
ENST00000650085.1:n.1788A>T
ENST00000262374.9:c.964A>T	ENSP00000262374.4:p.Lys322Ter
ENST00000544428.1:c.631A>T	ENSP00000440019.1:p.Lys211Ter
ENST00000588623.5:c.631A>T	ENSP00000468118.1:p.Lys211Ter
ENST00000591822.5:c.*865A>T	ENSP00000467865.1:n.*865A>T
NM_019109.4:c.964A>T	NP_061982.3:p.Lys322Ter
XM_011522565.1:c.631A>T	XP_011520867.1:p.Lys211Ter
XR_932882.1:n.1009A>T
NM_001330504.1:c.631A>T	NP_001317433.1:p.Lys211Ter
XM_017023457.2:c.925A>T	XP_016878946.1:p.Lys309Ter
XM_017023458.1:c.631A>T	XP_016878947.1:p.Lys211Ter
XR_932882.3:n.993A>T
NM_019109.5:c.964A>T MANE Select	NP_061982.3:p.Lys322Ter
NM_001330504.2:c.631A>T	NP_001317433.1:p.Lys211Ter