Canonical Allele Identifier: CA493335432

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5130960G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080959G>T , CM000678.2:g.5080959G>T	GRCh38
NC_000016.9:g.5130960G>T , CM000678.1:g.5130960G>T	GRCh37
NC_000016.8:g.5070961G>T	NCBI36
NG_009202.1:g.14151G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3111G>T
ENST00000682020.1:c.381G>T	ENSP00000508075.1:p.Leu127=
ENST00000682206.1:c.*67G>T	ENSP00000508285.1:n.*67G>T
ENST00000682314.1:n.1023G>T
ENST00000682327.1:c.447G>T	ENSP00000507058.1:p.Leu149=
ENST00000682349.1:n.3117G>T
ENST00000682703.1:n.3943G>T
ENST00000682797.1:c.*67G>T	ENSP00000507582.1:n.*67G>T
ENST00000682985.1:c.486G>T	ENSP00000507598.1:p.Leu162=
ENST00000683433.1:c.231G>T	ENSP00000507463.1:p.Leu77=
ENST00000683685.1:n.1849G>T
ENST00000683710.1:c.*942G>T	ENSP00000506785.1:n.*942G>T
ENST00000683739.1:c.642G>T	ENSP00000507002.1:p.Leu214=
ENST00000683772.1:n.1019G>T
ENST00000684008.1:c.913G>T	ENSP00000507962.1:n.913G>T
ENST00000684190.1:c.936G>T	ENSP00000507554.1:p.Leu312=
ENST00000684335.1:c.961+1152G>T	ENSP00000508112.1:n.961+1152G>T
ENST00000262374.10:c.975G>T MANE Select	ENSP00000262374.5:p.Leu325=
ENST00000650085.1:n.1799G>T
ENST00000262374.9:c.975G>T	ENSP00000262374.4:p.Leu325=
ENST00000544428.1:c.642G>T	ENSP00000440019.1:p.Leu214=
ENST00000588623.5:c.642G>T	ENSP00000468118.1:p.Leu214=
ENST00000591822.5:c.*876G>T	ENSP00000467865.1:n.*876G>T
NM_019109.4:c.975G>T	NP_061982.3:p.Leu325=
XM_011522565.1:c.642G>T	XP_011520867.1:p.Leu214=
XR_932882.1:n.1020G>T
NM_001330504.1:c.642G>T	NP_001317433.1:p.Leu214=
XM_017023457.2:c.936G>T	XP_016878946.1:p.Leu312=
XM_017023458.1:c.642G>T	XP_016878947.1:p.Leu214=
XR_932882.3:n.1004G>T
NM_019109.5:c.975G>T MANE Select	NP_061982.3:p.Leu325=
NM_001330504.2:c.642G>T	NP_001317433.1:p.Leu214=