Canonical Allele Identifier: CA7890149

Gene: ALG1

Linked Data

• dbSNP Id: rs565328229
• ExAC: 16:5130917 C / T
• gnomAD v2: 16-5130917-C-T
• gnomAD v3: 16-5080916-C-T
• gnomAD v4: 16-5080916-C-T
• MyVariant Identifiers: chr16:g.5130917C>T (hg19) ; chr16:g.5080916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080916C>T , CM000678.2:g.5080916C>T	GRCh38
NC_000016.9:g.5130917C>T , CM000678.1:g.5130917C>T	GRCh37
NC_000016.8:g.5070918C>T	NCBI36
NG_009202.1:g.14108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3098-30C>T
ENST00000682020.1:c.368-30C>T	ENSP00000508075.1:n.368-30C>T
ENST00000682206.1:c.*54-30C>T	ENSP00000508285.1:n.*54-30C>T
ENST00000682314.1:n.1010-30C>T
ENST00000682327.1:c.434-30C>T	ENSP00000507058.1:n.434-30C>T
ENST00000682349.1:n.3104-30C>T
ENST00000682703.1:n.3930-30C>T
ENST00000682797.1:c.*54-30C>T	ENSP00000507582.1:n.*54-30C>T
ENST00000682985.1:c.473-30C>T	ENSP00000507598.1:n.473-30C>T
ENST00000683433.1:c.218-30C>T	ENSP00000507463.1:n.218-30C>T
ENST00000683685.1:n.1836-30C>T
ENST00000683710.1:c.*929-30C>T	ENSP00000506785.1:n.*929-30C>T
ENST00000683739.1:c.629-30C>T	ENSP00000507002.1:n.629-30C>T
ENST00000683772.1:n.1006-30C>T
ENST00000684008.1:c.900-30C>T	ENSP00000507962.1:n.900-30C>T
ENST00000684190.1:c.923-30C>T	ENSP00000507554.1:n.923-30C>T
ENST00000684335.1:c.961+1109C>T	ENSP00000508112.1:n.961+1109C>T
ENST00000262374.10:c.962-30C>T MANE Select	ENSP00000262374.5:n.962-30C>T
ENST00000650085.1:n.1786-30C>T
ENST00000262374.9:c.962-30C>T	ENSP00000262374.4:n.962-30C>T
ENST00000544428.1:c.629-30C>T	ENSP00000440019.1:n.629-30C>T
ENST00000588623.5:c.629-30C>T	ENSP00000468118.1:n.629-30C>T
ENST00000591822.5:c.*863-30C>T	ENSP00000467865.1:n.*863-30C>T
NM_019109.4:c.962-30C>T	NP_061982.3:n.962-30C>T
XM_011522565.1:c.629-30C>T	XP_011520867.1:n.629-30C>T
XR_932882.1:n.1007-30C>T
NM_001330504.1:c.629-30C>T	NP_001317433.1:n.629-30C>T
XM_017023457.2:c.923-30C>T	XP_016878946.1:n.923-30C>T
XM_017023458.1:c.629-30C>T	XP_016878947.1:n.629-30C>T
XR_932882.3:n.991-30C>T
NM_019109.5:c.962-30C>T MANE Select	NP_061982.3:n.962-30C>T
NM_001330504.2:c.629-30C>T	NP_001317433.1:n.629-30C>T