Canonical Allele Identifier: CA394672533

Gene: ALG1

Linked Data

• gnomAD v4: 16-5080946-G-T
• MyVariant Identifiers: chr16:g.5130947G>T (hg19) ; chr16:g.5080946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080946G>T , CM000678.2:g.5080946G>T	GRCh38
NC_000016.9:g.5130947G>T , CM000678.1:g.5130947G>T	GRCh37
NC_000016.8:g.5070948G>T	NCBI36
NG_009202.1:g.14138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3098G>T
ENST00000682020.1:c.368G>T	ENSP00000508075.1:p.Gly123Val
ENST00000682206.1:c.*54G>T	ENSP00000508285.1:n.*54G>T
ENST00000682314.1:n.1010G>T
ENST00000682327.1:c.434G>T	ENSP00000507058.1:p.Gly145Val
ENST00000682349.1:n.3104G>T
ENST00000682703.1:n.3930G>T
ENST00000682797.1:c.*54G>T	ENSP00000507582.1:n.*54G>T
ENST00000682985.1:c.473G>T	ENSP00000507598.1:p.Gly158Val
ENST00000683433.1:c.218G>T	ENSP00000507463.1:p.Gly73Val
ENST00000683685.1:n.1836G>T
ENST00000683710.1:c.*929G>T	ENSP00000506785.1:n.*929G>T
ENST00000683739.1:c.629G>T	ENSP00000507002.1:p.Gly210Val
ENST00000683772.1:n.1006G>T
ENST00000684008.1:c.900G>T	ENSP00000507962.1:n.900G>T
ENST00000684190.1:c.923G>T	ENSP00000507554.1:p.Gly308Val
ENST00000684335.1:c.961+1139G>T	ENSP00000508112.1:n.961+1139G>T
ENST00000262374.10:c.962G>T MANE Select	ENSP00000262374.5:p.Gly321Val
ENST00000650085.1:n.1786G>T
ENST00000262374.9:c.962G>T	ENSP00000262374.4:p.Gly321Val
ENST00000544428.1:c.629G>T	ENSP00000440019.1:p.Gly210Val
ENST00000588623.5:c.629G>T	ENSP00000468118.1:p.Gly210Val
ENST00000591822.5:c.*863G>T	ENSP00000467865.1:n.*863G>T
NM_019109.4:c.962G>T	NP_061982.3:p.Gly321Val
XM_011522565.1:c.629G>T	XP_011520867.1:p.Gly210Val
XR_932882.1:n.1007G>T
NM_001330504.1:c.629G>T	NP_001317433.1:p.Gly210Val
XM_017023457.2:c.923G>T	XP_016878946.1:p.Gly308Val
XM_017023458.1:c.629G>T	XP_016878947.1:p.Gly210Val
XR_932882.3:n.991G>T
NM_019109.5:c.962G>T MANE Select	NP_061982.3:p.Gly321Val
NM_001330504.2:c.629G>T	NP_001317433.1:p.Gly210Val