Canonical Allele Identifier: CA394672561

Gene: ALG1

Linked Data

• gnomAD v4: 16-5080955-C-T
• MyVariant Identifiers: chr16:g.5130956C>T (hg19) ; chr16:g.5080955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080955C>T , CM000678.2:g.5080955C>T	GRCh38
NC_000016.9:g.5130956C>T , CM000678.1:g.5130956C>T	GRCh37
NC_000016.8:g.5070957C>T	NCBI36
NG_009202.1:g.14147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3107C>T
ENST00000682020.1:c.377C>T	ENSP00000508075.1:p.Pro126Leu
ENST00000682206.1:c.*63C>T	ENSP00000508285.1:n.*63C>T
ENST00000682314.1:n.1019C>T
ENST00000682327.1:c.443C>T	ENSP00000507058.1:p.Pro148Leu
ENST00000682349.1:n.3113C>T
ENST00000682703.1:n.3939C>T
ENST00000682797.1:c.*63C>T	ENSP00000507582.1:n.*63C>T
ENST00000682985.1:c.482C>T	ENSP00000507598.1:p.Pro161Leu
ENST00000683433.1:c.227C>T	ENSP00000507463.1:p.Pro76Leu
ENST00000683685.1:n.1845C>T
ENST00000683710.1:c.*938C>T	ENSP00000506785.1:n.*938C>T
ENST00000683739.1:c.638C>T	ENSP00000507002.1:p.Pro213Leu
ENST00000683772.1:n.1015C>T
ENST00000684008.1:c.909C>T	ENSP00000507962.1:n.909C>T
ENST00000684190.1:c.932C>T	ENSP00000507554.1:p.Pro311Leu
ENST00000684335.1:c.961+1148C>T	ENSP00000508112.1:n.961+1148C>T
ENST00000262374.10:c.971C>T MANE Select	ENSP00000262374.5:p.Pro324Leu
ENST00000650085.1:n.1795C>T
ENST00000262374.9:c.971C>T	ENSP00000262374.4:p.Pro324Leu
ENST00000544428.1:c.638C>T	ENSP00000440019.1:p.Pro213Leu
ENST00000588623.5:c.638C>T	ENSP00000468118.1:p.Pro213Leu
ENST00000591822.5:c.*872C>T	ENSP00000467865.1:n.*872C>T
NM_019109.4:c.971C>T	NP_061982.3:p.Pro324Leu
XM_011522565.1:c.638C>T	XP_011520867.1:p.Pro213Leu
XR_932882.1:n.1016C>T
NM_001330504.1:c.638C>T	NP_001317433.1:p.Pro213Leu
XM_017023457.2:c.932C>T	XP_016878946.1:p.Pro311Leu
XM_017023458.1:c.638C>T	XP_016878947.1:p.Pro213Leu
XR_932882.3:n.1000C>T
NM_019109.5:c.971C>T MANE Select	NP_061982.3:p.Pro324Leu
NM_001330504.2:c.638C>T	NP_001317433.1:p.Pro213Leu