Canonical Allele Identifier: CA7890174

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081020C>A , CM000678.2:g.5081020C>A	GRCh38
NC_000016.9:g.5131021C>A , CM000678.1:g.5131021C>A	GRCh37
NC_000016.8:g.5071022C>A	NCBI36
NG_009202.1:g.14212C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1036C>A MANE Select	NP_061982.3:p.Pro346Thr
ENST00000262374.10:c.1036C>A MANE Select	ENSP00000262374.5:p.Pro346Thr
NM_001330504.1:c.703C>A	NP_001317433.1:p.Pro235Thr
NM_001330504.2:c.703C>A	NP_001317433.1:p.Pro235Thr
NM_019109.4:c.1036C>A	NP_061982.3:p.Pro346Thr
ENST00000262374.9:c.1036C>A	ENSP00000262374.4:p.Pro346Thr
ENST00000544428.1:c.703C>A	ENSP00000440019.1:p.Pro235Thr
ENST00000588623.5:c.703C>A	ENSP00000468118.1:p.Pro235Thr
ENST00000591822.5:c.*937C>A	ENSP00000467865.1:n.*937C>A
ENST00000592793.6:n.3172C>A
ENST00000650085.1:n.1860C>A
ENST00000682020.1:c.442C>A	ENSP00000508075.1:p.Pro148Thr
ENST00000682206.1:c.*128C>A	ENSP00000508285.1:n.*128C>A
ENST00000682314.1:n.1084C>A
ENST00000682327.1:c.508C>A	ENSP00000507058.1:p.Pro170Thr
ENST00000682349.1:n.3178C>A
ENST00000682703.1:n.4004C>A
ENST00000682797.1:c.*128C>A	ENSP00000507582.1:n.*128C>A
ENST00000682985.1:c.547C>A	ENSP00000507598.1:p.Pro183Thr
ENST00000683433.1:c.292C>A	ENSP00000507463.1:p.Pro98Thr
ENST00000683685.1:n.1910C>A
ENST00000683710.1:c.*1003C>A	ENSP00000506785.1:n.*1003C>A
ENST00000683739.1:c.703C>A	ENSP00000507002.1:p.Pro235Thr
ENST00000683772.1:n.1080C>A
ENST00000684008.1:c.974C>A	ENSP00000507962.1:n.974C>A
ENST00000684190.1:c.997C>A	ENSP00000507554.1:p.Pro333Thr
ENST00000684335.1:c.961+1213C>A	ENSP00000508112.1:n.961+1213C>A
XM_011522565.1:c.703C>A	XP_011520867.1:p.Pro235Thr
XM_017023457.2:c.997C>A	XP_016878946.1:p.Pro333Thr
XM_017023458.1:c.703C>A	XP_016878947.1:p.Pro235Thr
XR_932882.3:n.1065C>A