Canonical Allele Identifier: CA493335434

Gene: ALG1

Linked Data

• gnomAD v4: 16-5080968-T-C
• MyVariant Identifiers: chr16:g.5130969T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080968T>C , CM000678.2:g.5080968T>C	GRCh38
NC_000016.9:g.5130969T>C , CM000678.1:g.5130969T>C	GRCh37
NC_000016.8:g.5070970T>C	NCBI36
NG_009202.1:g.14160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3120T>C
ENST00000682020.1:c.390T>C	ENSP00000508075.1:p.Tyr130=
ENST00000682206.1:c.*76T>C	ENSP00000508285.1:n.*76T>C
ENST00000682314.1:n.1032T>C
ENST00000682327.1:c.456T>C	ENSP00000507058.1:p.Tyr152=
ENST00000682349.1:n.3126T>C
ENST00000682703.1:n.3952T>C
ENST00000682797.1:c.*76T>C	ENSP00000507582.1:n.*76T>C
ENST00000682985.1:c.495T>C	ENSP00000507598.1:p.Tyr165=
ENST00000683433.1:c.240T>C	ENSP00000507463.1:p.Tyr80=
ENST00000683685.1:n.1858T>C
ENST00000683710.1:c.*951T>C	ENSP00000506785.1:n.*951T>C
ENST00000683739.1:c.651T>C	ENSP00000507002.1:p.Tyr217=
ENST00000683772.1:n.1028T>C
ENST00000684008.1:c.922T>C	ENSP00000507962.1:n.922T>C
ENST00000684190.1:c.945T>C	ENSP00000507554.1:p.Tyr315=
ENST00000684335.1:c.961+1161T>C	ENSP00000508112.1:n.961+1161T>C
ENST00000262374.10:c.984T>C MANE Select	ENSP00000262374.5:p.Tyr328=
ENST00000650085.1:n.1808T>C
ENST00000262374.9:c.984T>C	ENSP00000262374.4:p.Tyr328=
ENST00000544428.1:c.651T>C	ENSP00000440019.1:p.Tyr217=
ENST00000588623.5:c.651T>C	ENSP00000468118.1:p.Tyr217=
ENST00000591822.5:c.*885T>C	ENSP00000467865.1:n.*885T>C
NM_019109.4:c.984T>C	NP_061982.3:p.Tyr328=
XM_011522565.1:c.651T>C	XP_011520867.1:p.Tyr217=
XR_932882.1:n.1029T>C
NM_001330504.1:c.651T>C	NP_001317433.1:p.Tyr217=
XM_017023457.2:c.945T>C	XP_016878946.1:p.Tyr315=
XM_017023458.1:c.651T>C	XP_016878947.1:p.Tyr217=
XR_932882.3:n.1013T>C
NM_019109.5:c.984T>C MANE Select	NP_061982.3:p.Tyr328=
NM_001330504.2:c.651T>C	NP_001317433.1:p.Tyr217=