Canonical Allele Identifier: CA394673756

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5132572T>C (hg19) ; chr16:g.5082571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082571T>C , CM000678.2:g.5082571T>C	GRCh38
NC_000016.9:g.5132572T>C , CM000678.1:g.5132572T>C	GRCh37
NC_000016.8:g.5072573T>C	NCBI36
NG_009202.1:g.15763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3221T>C
ENST00000682020.1:c.491T>C	ENSP00000508075.1:p.Leu164Pro
ENST00000682206.1:c.*180T>C	ENSP00000508285.1:n.*180T>C
ENST00000682314.1:n.1133T>C
ENST00000682327.1:c.557T>C	ENSP00000507058.1:p.Leu186Pro
ENST00000682349.1:n.3227T>C
ENST00000682703.1:n.4053T>C
ENST00000682797.1:c.*177T>C	ENSP00000507582.1:n.*177T>C
ENST00000682985.1:c.596T>C	ENSP00000507598.1:p.Leu199Pro
ENST00000683433.1:c.344T>C	ENSP00000507463.1:p.Leu115Pro
ENST00000683685.1:n.1959T>C
ENST00000683710.1:c.*1052T>C	ENSP00000506785.1:n.*1052T>C
ENST00000683739.1:c.752T>C	ENSP00000507002.1:p.Leu251Pro
ENST00000683772.1:n.1129T>C
ENST00000684008.1:c.1023T>C	ENSP00000507962.1:n.1023T>C
ENST00000684190.1:c.1046T>C	ENSP00000507554.1:p.Leu349Pro
ENST00000684335.1:c.974T>C	ENSP00000508112.1:p.Leu325Pro
ENST00000262374.10:c.1085T>C MANE Select	ENSP00000262374.5:p.Leu362Pro
ENST00000650085.1:n.1909T>C
ENST00000262374.9:c.1085T>C	ENSP00000262374.4:p.Leu362Pro
ENST00000544428.1:c.752T>C	ENSP00000440019.1:p.Leu251Pro
ENST00000588623.5:c.752T>C	ENSP00000468118.1:p.Leu251Pro
ENST00000591822.5:c.*986T>C	ENSP00000467865.1:n.*986T>C
NM_019109.4:c.1085T>C	NP_061982.3:p.Leu362Pro
XM_011522565.1:c.752T>C	XP_011520867.1:p.Leu251Pro
NM_001330504.1:c.752T>C	NP_001317433.1:p.Leu251Pro
XM_017023457.2:c.1046T>C	XP_016878946.1:p.Leu349Pro
XM_017023458.1:c.752T>C	XP_016878947.1:p.Leu251Pro
XR_932882.3:n.1114T>C
NM_019109.5:c.1085T>C MANE Select	NP_061982.3:p.Leu362Pro
NM_001330504.2:c.752T>C	NP_001317433.1:p.Leu251Pro