Canonical Allele Identifier: CA2519813922

Gene: ALG1

Linked Data

• gnomAD v4: 16-5081134-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081134C>T , CM000678.2:g.5081134C>T	GRCh38
NC_000016.9:g.5131135C>T , CM000678.1:g.5131135C>T	GRCh37
NC_000016.8:g.5071136C>T	NCBI36
NG_009202.1:g.14326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3208+78C>T
ENST00000682020.1:c.478+78C>T	ENSP00000508075.1:n.478+78C>T
ENST00000682206.1:c.*164+78C>T	ENSP00000508285.1:n.*164+78C>T
ENST00000682314.1:n.1120+78C>T
ENST00000682327.1:c.544+78C>T	ENSP00000507058.1:n.544+78C>T
ENST00000682349.1:n.3214+78C>T
ENST00000682703.1:n.4040+78C>T
ENST00000682797.1:c.*164+78C>T	ENSP00000507582.1:n.*164+78C>T
ENST00000682985.1:c.583+78C>T	ENSP00000507598.1:n.583+78C>T
ENST00000683433.1:c.328+78C>T	ENSP00000507463.1:n.328+78C>T
ENST00000683685.1:n.1946+78C>T
ENST00000683710.1:c.*1039+78C>T	ENSP00000506785.1:n.*1039+78C>T
ENST00000683739.1:c.739+78C>T	ENSP00000507002.1:n.739+78C>T
ENST00000683772.1:n.1116+78C>T
ENST00000684008.1:c.1010+78C>T	ENSP00000507962.1:n.1010+78C>T
ENST00000684190.1:c.1033+78C>T	ENSP00000507554.1:n.1033+78C>T
ENST00000684335.1:c.961+1327C>T	ENSP00000508112.1:n.961+1327C>T
ENST00000262374.10:c.1072+78C>T MANE Select	ENSP00000262374.5:n.1072+78C>T
ENST00000650085.1:n.1896+78C>T
ENST00000262374.9:c.1072+78C>T	ENSP00000262374.4:n.1072+78C>T
ENST00000544428.1:c.739+78C>T	ENSP00000440019.1:n.739+78C>T
ENST00000588623.5:c.739+78C>T	ENSP00000468118.1:n.739+78C>T
ENST00000591822.5:c.*973+78C>T	ENSP00000467865.1:n.*973+78C>T
NM_019109.4:c.1072+78C>T	NP_061982.3:n.1072+78C>T
XM_011522565.1:c.739+78C>T	XP_011520867.1:n.739+78C>T
NM_001330504.1:c.739+78C>T	NP_001317433.1:n.739+78C>T
XM_017023457.2:c.1033+78C>T	XP_016878946.1:n.1033+78C>T
XM_017023458.1:c.739+78C>T	XP_016878947.1:n.739+78C>T
XR_932882.3:n.1101+78C>T
NM_019109.5:c.1072+78C>T MANE Select	NP_061982.3:n.1072+78C>T
NM_001330504.2:c.739+78C>T	NP_001317433.1:n.739+78C>T