Canonical Allele Identifier: CA620530441

Gene: ALG1

Linked Data

• dbSNP Id: rs754882539
• gnomAD v2: 16-5130914-G-A
• gnomAD v4: 16-5080913-G-A
• MyVariant Identifiers: chr16:g.5130914G>A (hg19) ; chr16:g.5080913G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080913G>A , CM000678.2:g.5080913G>A	GRCh38
NC_000016.9:g.5130914G>A , CM000678.1:g.5130914G>A	GRCh37
NC_000016.8:g.5070915G>A	NCBI36
NG_009202.1:g.14105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3098-33G>A
ENST00000682020.1:c.368-33G>A	ENSP00000508075.1:n.368-33G>A
ENST00000682206.1:c.*54-33G>A	ENSP00000508285.1:n.*54-33G>A
ENST00000682314.1:n.1010-33G>A
ENST00000682327.1:c.434-33G>A	ENSP00000507058.1:n.434-33G>A
ENST00000682349.1:n.3104-33G>A
ENST00000682703.1:n.3930-33G>A
ENST00000682797.1:c.*54-33G>A	ENSP00000507582.1:n.*54-33G>A
ENST00000682985.1:c.473-33G>A	ENSP00000507598.1:n.473-33G>A
ENST00000683433.1:c.218-33G>A	ENSP00000507463.1:n.218-33G>A
ENST00000683685.1:n.1836-33G>A
ENST00000683710.1:c.*929-33G>A	ENSP00000506785.1:n.*929-33G>A
ENST00000683739.1:c.629-33G>A	ENSP00000507002.1:n.629-33G>A
ENST00000683772.1:n.1006-33G>A
ENST00000684008.1:c.900-33G>A	ENSP00000507962.1:n.900-33G>A
ENST00000684190.1:c.923-33G>A	ENSP00000507554.1:n.923-33G>A
ENST00000684335.1:c.961+1106G>A	ENSP00000508112.1:n.961+1106G>A
ENST00000262374.10:c.962-33G>A MANE Select	ENSP00000262374.5:n.962-33G>A
ENST00000650085.1:n.1786-33G>A
ENST00000262374.9:c.962-33G>A	ENSP00000262374.4:n.962-33G>A
ENST00000544428.1:c.629-33G>A	ENSP00000440019.1:n.629-33G>A
ENST00000588623.5:c.629-33G>A	ENSP00000468118.1:n.629-33G>A
ENST00000591822.5:c.*863-33G>A	ENSP00000467865.1:n.*863-33G>A
NM_019109.4:c.962-33G>A	NP_061982.3:n.962-33G>A
XM_011522565.1:c.629-33G>A	XP_011520867.1:n.629-33G>A
XR_932882.1:n.1007-33G>A
NM_001330504.1:c.629-33G>A	NP_001317433.1:n.629-33G>A
XM_017023457.2:c.923-33G>A	XP_016878946.1:n.923-33G>A
XM_017023458.1:c.629-33G>A	XP_016878947.1:n.629-33G>A
XR_932882.3:n.991-33G>A
NM_019109.5:c.962-33G>A MANE Select	NP_061982.3:n.962-33G>A
NM_001330504.2:c.629-33G>A	NP_001317433.1:n.629-33G>A