Canonical Allele Identifier: CA394673107

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081041T>G , CM000678.2:g.5081041T>G	GRCh38
NC_000016.9:g.5131042T>G , CM000678.1:g.5131042T>G	GRCh37
NC_000016.8:g.5071043T>G	NCBI36
NG_009202.1:g.14233T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1057T>G MANE Select	NP_061982.3:p.Tyr353Asp
ENST00000262374.10:c.1057T>G MANE Select	ENSP00000262374.5:p.Tyr353Asp
NM_001330504.1:c.724T>G	NP_001317433.1:p.Tyr242Asp
NM_001330504.2:c.724T>G	NP_001317433.1:p.Tyr242Asp
NM_019109.4:c.1057T>G	NP_061982.3:p.Tyr353Asp
ENST00000262374.9:c.1057T>G	ENSP00000262374.4:p.Tyr353Asp
ENST00000544428.1:c.724T>G	ENSP00000440019.1:p.Tyr242Asp
ENST00000588623.5:c.724T>G	ENSP00000468118.1:p.Tyr242Asp
ENST00000591822.5:c.*958T>G	ENSP00000467865.1:n.*958T>G
ENST00000592793.6:n.3193T>G
ENST00000650085.1:n.1881T>G
ENST00000682020.1:c.463T>G	ENSP00000508075.1:p.Tyr155Asp
ENST00000682206.1:c.*149T>G	ENSP00000508285.1:n.*149T>G
ENST00000682314.1:n.1105T>G
ENST00000682327.1:c.529T>G	ENSP00000507058.1:p.Tyr177Asp
ENST00000682349.1:n.3199T>G
ENST00000682703.1:n.4025T>G
ENST00000682797.1:c.*149T>G	ENSP00000507582.1:n.*149T>G
ENST00000682985.1:c.568T>G	ENSP00000507598.1:p.Tyr190Asp
ENST00000683433.1:c.313T>G	ENSP00000507463.1:p.Tyr105Asp
ENST00000683685.1:n.1931T>G
ENST00000683710.1:c.*1024T>G	ENSP00000506785.1:n.*1024T>G
ENST00000683739.1:c.724T>G	ENSP00000507002.1:p.Tyr242Asp
ENST00000683772.1:n.1101T>G
ENST00000684008.1:c.995T>G	ENSP00000507962.1:n.995T>G
ENST00000684190.1:c.1018T>G	ENSP00000507554.1:p.Tyr340Asp
ENST00000684335.1:c.961+1234T>G	ENSP00000508112.1:n.961+1234T>G
XM_011522565.1:c.724T>G	XP_011520867.1:p.Tyr242Asp
XM_017023457.2:c.1018T>G	XP_016878946.1:p.Tyr340Asp
XM_017023458.1:c.724T>G	XP_016878947.1:p.Tyr242Asp
XR_932882.3:n.1086T>G