Canonical Allele Identifier: CA394673115

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081043C>A , CM000678.2:g.5081043C>A	GRCh38
NC_000016.9:g.5131044C>A , CM000678.1:g.5131044C>A	GRCh37
NC_000016.8:g.5071045C>A	NCBI36
NG_009202.1:g.14235C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1059C>A MANE Select	NP_061982.3:p.Tyr353Ter
ENST00000262374.10:c.1059C>A MANE Select	ENSP00000262374.5:p.Tyr353Ter
NM_001330504.1:c.726C>A	NP_001317433.1:p.Tyr242Ter
NM_001330504.2:c.726C>A	NP_001317433.1:p.Tyr242Ter
NM_019109.4:c.1059C>A	NP_061982.3:p.Tyr353Ter
ENST00000262374.9:c.1059C>A	ENSP00000262374.4:p.Tyr353Ter
ENST00000544428.1:c.726C>A	ENSP00000440019.1:p.Tyr242Ter
ENST00000588623.5:c.726C>A	ENSP00000468118.1:p.Tyr242Ter
ENST00000591822.5:c.*960C>A	ENSP00000467865.1:n.*960C>A
ENST00000592793.6:n.3195C>A
ENST00000650085.1:n.1883C>A
ENST00000682020.1:c.465C>A	ENSP00000508075.1:p.Tyr155Ter
ENST00000682206.1:c.*151C>A	ENSP00000508285.1:n.*151C>A
ENST00000682314.1:n.1107C>A
ENST00000682327.1:c.531C>A	ENSP00000507058.1:p.Tyr177Ter
ENST00000682349.1:n.3201C>A
ENST00000682703.1:n.4027C>A
ENST00000682797.1:c.*151C>A	ENSP00000507582.1:n.*151C>A
ENST00000682985.1:c.570C>A	ENSP00000507598.1:p.Tyr190Ter
ENST00000683433.1:c.315C>A	ENSP00000507463.1:p.Tyr105Ter
ENST00000683685.1:n.1933C>A
ENST00000683710.1:c.*1026C>A	ENSP00000506785.1:n.*1026C>A
ENST00000683739.1:c.726C>A	ENSP00000507002.1:p.Tyr242Ter
ENST00000683772.1:n.1103C>A
ENST00000684008.1:c.997C>A	ENSP00000507962.1:n.997C>A
ENST00000684190.1:c.1020C>A	ENSP00000507554.1:p.Tyr340Ter
ENST00000684335.1:c.961+1236C>A	ENSP00000508112.1:n.961+1236C>A
XM_011522565.1:c.726C>A	XP_011520867.1:p.Tyr242Ter
XM_017023457.2:c.1020C>A	XP_016878946.1:p.Tyr340Ter
XM_017023458.1:c.726C>A	XP_016878947.1:p.Tyr242Ter
XR_932882.3:n.1088C>A