Canonical Allele Identifier: CA394672941

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5131011G>C (hg19) ; chr16:g.5081010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081010G>C , CM000678.2:g.5081010G>C	GRCh38
NC_000016.9:g.5131011G>C , CM000678.1:g.5131011G>C	GRCh37
NC_000016.8:g.5071012G>C	NCBI36
NG_009202.1:g.14202G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3162G>C
ENST00000682020.1:c.432G>C	ENSP00000508075.1:p.Gln144His
ENST00000682206.1:c.*118G>C	ENSP00000508285.1:n.*118G>C
ENST00000682314.1:n.1074G>C
ENST00000682327.1:c.498G>C	ENSP00000507058.1:p.Gln166His
ENST00000682349.1:n.3168G>C
ENST00000682703.1:n.3994G>C
ENST00000682797.1:c.*118G>C	ENSP00000507582.1:n.*118G>C
ENST00000682985.1:c.537G>C	ENSP00000507598.1:p.Gln179His
ENST00000683433.1:c.282G>C	ENSP00000507463.1:p.Gln94His
ENST00000683685.1:n.1900G>C
ENST00000683710.1:c.*993G>C	ENSP00000506785.1:n.*993G>C
ENST00000683739.1:c.693G>C	ENSP00000507002.1:p.Gln231His
ENST00000683772.1:n.1070G>C
ENST00000684008.1:c.964G>C	ENSP00000507962.1:n.964G>C
ENST00000684190.1:c.987G>C	ENSP00000507554.1:p.Gln329His
ENST00000684335.1:c.961+1203G>C	ENSP00000508112.1:n.961+1203G>C
ENST00000262374.10:c.1026G>C MANE Select	ENSP00000262374.5:p.Gln342His
ENST00000650085.1:n.1850G>C
ENST00000262374.9:c.1026G>C	ENSP00000262374.4:p.Gln342His
ENST00000544428.1:c.693G>C	ENSP00000440019.1:p.Gln231His
ENST00000588623.5:c.693G>C	ENSP00000468118.1:p.Gln231His
ENST00000591822.5:c.*927G>C	ENSP00000467865.1:n.*927G>C
NM_019109.4:c.1026G>C	NP_061982.3:p.Gln342His
XM_011522565.1:c.693G>C	XP_011520867.1:p.Gln231His
NM_001330504.1:c.693G>C	NP_001317433.1:p.Gln231His
XM_017023457.2:c.987G>C	XP_016878946.1:p.Gln329His
XM_017023458.1:c.693G>C	XP_016878947.1:p.Gln231His
XR_932882.3:n.1055G>C
NM_019109.5:c.1026G>C MANE Select	NP_061982.3:p.Gln342His
NM_001330504.2:c.693G>C	NP_001317433.1:p.Gln231His