Canonical Allele Identifier: CA394672902

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5131004A>T (hg19) ; chr16:g.5081003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081003A>T , CM000678.2:g.5081003A>T	GRCh38
NC_000016.9:g.5131004A>T , CM000678.1:g.5131004A>T	GRCh37
NC_000016.8:g.5071005A>T	NCBI36
NG_009202.1:g.14195A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3155A>T
ENST00000682020.1:c.425A>T	ENSP00000508075.1:p.His142Leu
ENST00000682206.1:c.*111A>T	ENSP00000508285.1:n.*111A>T
ENST00000682314.1:n.1067A>T
ENST00000682327.1:c.491A>T	ENSP00000507058.1:p.His164Leu
ENST00000682349.1:n.3161A>T
ENST00000682703.1:n.3987A>T
ENST00000682797.1:c.*111A>T	ENSP00000507582.1:n.*111A>T
ENST00000682985.1:c.530A>T	ENSP00000507598.1:p.His177Leu
ENST00000683433.1:c.275A>T	ENSP00000507463.1:p.His92Leu
ENST00000683685.1:n.1893A>T
ENST00000683710.1:c.*986A>T	ENSP00000506785.1:n.*986A>T
ENST00000683739.1:c.686A>T	ENSP00000507002.1:p.His229Leu
ENST00000683772.1:n.1063A>T
ENST00000684008.1:c.957A>T	ENSP00000507962.1:n.957A>T
ENST00000684190.1:c.980A>T	ENSP00000507554.1:p.His327Leu
ENST00000684335.1:c.961+1196A>T	ENSP00000508112.1:n.961+1196A>T
ENST00000262374.10:c.1019A>T MANE Select	ENSP00000262374.5:p.His340Leu
ENST00000650085.1:n.1843A>T
ENST00000262374.9:c.1019A>T	ENSP00000262374.4:p.His340Leu
ENST00000544428.1:c.686A>T	ENSP00000440019.1:p.His229Leu
ENST00000588623.5:c.686A>T	ENSP00000468118.1:p.His229Leu
ENST00000591822.5:c.*920A>T	ENSP00000467865.1:n.*920A>T
NM_019109.4:c.1019A>T	NP_061982.3:p.His340Leu
XM_011522565.1:c.686A>T	XP_011520867.1:p.His229Leu
NM_001330504.1:c.686A>T	NP_001317433.1:p.His229Leu
XM_017023457.2:c.980A>T	XP_016878946.1:p.His327Leu
XM_017023458.1:c.686A>T	XP_016878947.1:p.His229Leu
XR_932882.3:n.1048A>T
NM_019109.5:c.1019A>T MANE Select	NP_061982.3:p.His340Leu
NM_001330504.2:c.686A>T	NP_001317433.1:p.His229Leu