Canonical Allele Identifier: CA7889632

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5071867G>C , CM000678.2:g.5071867G>C	GRCh38
NC_000016.9:g.5121868G>C , CM000678.1:g.5121868G>C	GRCh37
NC_000016.8:g.5061869G>C	NCBI36
NG_009202.1:g.5059G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.18G>C MANE Select	NP_061982.3:p.Leu6Phe
ENST00000262374.10:c.18G>C MANE Select	ENSP00000262374.5:p.Leu6Phe
NM_019109.4:c.18G>C	NP_061982.3:p.Leu6Phe
ENST00000262374.9:c.18G>C	ENSP00000262374.4:p.Leu6Phe
ENST00000586840.1:c.18G>C	ENSP00000467538.1:p.Leu6Phe
ENST00000588623.5:c.-125-1084G>C	ENSP00000468118.1:n.-125-1084G>C
ENST00000591822.5:c.18G>C	ENSP00000467865.1:p.Leu6Phe
ENST00000592793.5:n.25G>C
ENST00000592793.6:n.25G>C
ENST00000650085.1:n.1013-1084G>C
ENST00000682020.1:c.-55-5578G>C	ENSP00000508075.1:n.-55-5578G>C
ENST00000682206.1:c.18G>C	ENSP00000508285.1:p.Leu6Phe
ENST00000682314.1:n.62G>C
ENST00000682327.1:c.-99-3521G>C	ENSP00000507058.1:n.-99-3521G>C
ENST00000682349.1:n.25G>C
ENST00000682703.1:n.25G>C
ENST00000682797.1:c.18G>C	ENSP00000507582.1:p.Leu6Phe
ENST00000682985.1:c.-99-3521G>C	ENSP00000507598.1:n.-99-3521G>C
ENST00000683433.1:c.-55-5578G>C	ENSP00000507463.1:n.-55-5578G>C
ENST00000683685.1:n.62G>C
ENST00000683710.1:c.18G>C	ENSP00000506785.1:p.Leu6Phe
ENST00000683772.1:n.62G>C
ENST00000684008.1:c.18G>C	ENSP00000507962.1:p.Leu6Phe
ENST00000684190.1:c.18G>C	ENSP00000507554.1:p.Leu6Phe
ENST00000684335.1:c.18G>C	ENSP00000508112.1:p.Leu6Phe
XM_017023457.2:c.18G>C	XP_016878946.1:p.Leu6Phe
XM_017023458.1:c.-472G>C	XP_016878947.1:n.-472G>C
XR_932882.1:n.59G>C
XR_932882.3:n.43G>C