Canonical Allele Identifier: CA394673735

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5132568G>C (hg19) ; chr16:g.5082567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082567G>C , CM000678.2:g.5082567G>C	GRCh38
NC_000016.9:g.5132568G>C , CM000678.1:g.5132568G>C	GRCh37
NC_000016.8:g.5072569G>C	NCBI36
NG_009202.1:g.15759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3217G>C
ENST00000682020.1:c.487G>C	ENSP00000508075.1:p.Asp163His
ENST00000682206.1:c.*176G>C	ENSP00000508285.1:n.*176G>C
ENST00000682314.1:n.1129G>C
ENST00000682327.1:c.553G>C	ENSP00000507058.1:p.Asp185His
ENST00000682349.1:n.3223G>C
ENST00000682703.1:n.4049G>C
ENST00000682797.1:c.*173G>C	ENSP00000507582.1:n.*173G>C
ENST00000682985.1:c.592G>C	ENSP00000507598.1:p.Asp198His
ENST00000683433.1:c.340G>C	ENSP00000507463.1:p.Asp114His
ENST00000683685.1:n.1955G>C
ENST00000683710.1:c.*1048G>C	ENSP00000506785.1:n.*1048G>C
ENST00000683739.1:c.748G>C	ENSP00000507002.1:p.Asp250His
ENST00000683772.1:n.1125G>C
ENST00000684008.1:c.1019G>C	ENSP00000507962.1:n.1019G>C
ENST00000684190.1:c.1042G>C	ENSP00000507554.1:p.Asp348His
ENST00000684335.1:c.970G>C	ENSP00000508112.1:p.Asp324His
ENST00000262374.10:c.1081G>C MANE Select	ENSP00000262374.5:p.Asp361His
ENST00000650085.1:n.1905G>C
ENST00000262374.9:c.1081G>C	ENSP00000262374.4:p.Asp361His
ENST00000544428.1:c.748G>C	ENSP00000440019.1:p.Asp250His
ENST00000588623.5:c.748G>C	ENSP00000468118.1:p.Asp250His
ENST00000591822.5:c.*982G>C	ENSP00000467865.1:n.*982G>C
NM_019109.4:c.1081G>C	NP_061982.3:p.Asp361His
XM_011522565.1:c.748G>C	XP_011520867.1:p.Asp250His
NM_001330504.1:c.748G>C	NP_001317433.1:p.Asp250His
XM_017023457.2:c.1042G>C	XP_016878946.1:p.Asp348His
XM_017023458.1:c.748G>C	XP_016878947.1:p.Asp250His
XR_932882.3:n.1110G>C
NM_019109.5:c.1081G>C MANE Select	NP_061982.3:p.Asp361His
NM_001330504.2:c.748G>C	NP_001317433.1:p.Asp250His