Canonical Allele Identifier: CA394681714

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5128777G>T (hg19) ; chr16:g.5078776G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078776G>T , CM000678.2:g.5078776G>T	GRCh38
NC_000016.9:g.5128777G>T , CM000678.1:g.5128777G>T	GRCh37
NC_000016.8:g.5068778G>T	NCBI36
NG_009202.1:g.11968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.2898G>T
ENST00000682020.1:c.166G>T	ENSP00000508075.1:p.Val56Phe
ENST00000682206.1:c.760G>T	ENSP00000508285.1:p.Val254Phe
ENST00000682314.1:n.804G>T
ENST00000682327.1:c.271G>T	ENSP00000507058.1:p.Val91Phe
ENST00000682349.1:n.2898G>T
ENST00000682703.1:n.2898G>T
ENST00000682797.1:c.760G>T	ENSP00000507582.1:p.Val254Phe
ENST00000682985.1:c.271G>T	ENSP00000507598.1:p.Val91Phe
ENST00000683433.1:c.55G>T	ENSP00000507463.1:p.Val19Phe
ENST00000683685.1:n.804G>T
ENST00000683710.1:c.*723G>T	ENSP00000506785.1:n.*723G>T
ENST00000683739.1:c.427G>T	ENSP00000507002.1:p.Val143Phe
ENST00000683772.1:n.804G>T
ENST00000684008.1:c.694G>T	ENSP00000507962.1:p.Val232Phe
ENST00000684190.1:c.760G>T	ENSP00000507554.1:p.Val254Phe
ENST00000684335.1:c.760G>T	ENSP00000508112.1:p.Val254Phe
ENST00000262374.10:c.760G>T MANE Select	ENSP00000262374.5:p.Val254Phe
ENST00000650085.1:n.1580G>T
ENST00000262374.9:c.760G>T	ENSP00000262374.4:p.Val254Phe
ENST00000544428.1:c.427G>T	ENSP00000440019.1:p.Val143Phe
ENST00000588623.5:c.427G>T	ENSP00000468118.1:p.Val143Phe
ENST00000591783.5:c.427G>T	ENSP00000464700.1:p.Val143Phe
ENST00000591822.5:c.*661G>T	ENSP00000467865.1:n.*661G>T
NM_019109.4:c.760G>T	NP_061982.3:p.Val254Phe
XM_011522565.1:c.427G>T	XP_011520867.1:p.Val143Phe
XR_932882.1:n.801G>T
NM_001330504.1:c.427G>T	NP_001317433.1:p.Val143Phe
XM_017023457.2:c.760G>T	XP_016878946.1:p.Val254Phe
XM_017023458.1:c.427G>T	XP_016878947.1:p.Val143Phe
XR_932882.3:n.785G>T
NM_019109.5:c.760G>T MANE Select	NP_061982.3:p.Val254Phe
NM_001330504.2:c.427G>T	NP_001317433.1:p.Val143Phe