Canonical Allele Identifier: CA7890238

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082630A>G , CM000678.2:g.5082630A>G	GRCh38
NC_000016.9:g.5132631A>G , CM000678.1:g.5132631A>G	GRCh37
NC_000016.8:g.5072632A>G	NCBI36
NG_009202.1:g.15822A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1144A>G MANE Select	NP_061982.3:p.Met382Val
ENST00000262374.10:c.1144A>G MANE Select	ENSP00000262374.5:p.Met382Val
NM_001330504.1:c.811A>G	NP_001317433.1:p.Met271Val
NM_001330504.2:c.811A>G	NP_001317433.1:p.Met271Val
NM_019109.4:c.1144A>G	NP_061982.3:p.Met382Val
ENST00000262374.9:c.1144A>G	ENSP00000262374.4:p.Met382Val
ENST00000544428.1:c.811A>G	ENSP00000440019.1:p.Met271Val
ENST00000588623.5:c.811A>G	ENSP00000468118.1:p.Met271Val
ENST00000591822.5:c.*1045A>G	ENSP00000467865.1:n.*1045A>G
ENST00000592793.6:n.3280A>G
ENST00000650085.1:n.1968A>G
ENST00000682020.1:c.550A>G	ENSP00000508075.1:p.Met184Val
ENST00000682206.1:c.*239A>G	ENSP00000508285.1:n.*239A>G
ENST00000682314.1:n.1192A>G
ENST00000682327.1:c.616A>G	ENSP00000507058.1:p.Met206Val
ENST00000682349.1:n.3286A>G
ENST00000682703.1:n.4112A>G
ENST00000682797.1:c.*236A>G	ENSP00000507582.1:n.*236A>G
ENST00000682985.1:c.655A>G	ENSP00000507598.1:p.Met219Val
ENST00000683433.1:c.403A>G	ENSP00000507463.1:p.Met135Val
ENST00000683685.1:n.2018A>G
ENST00000683710.1:c.*1111A>G	ENSP00000506785.1:n.*1111A>G
ENST00000683739.1:c.811A>G	ENSP00000507002.1:p.Met271Val
ENST00000683772.1:n.1188A>G
ENST00000684008.1:c.1082A>G	ENSP00000507962.1:n.1082A>G
ENST00000684190.1:c.1105A>G	ENSP00000507554.1:p.Met369Val
ENST00000684335.1:c.1033A>G	ENSP00000508112.1:p.Met345Val
XM_011522565.1:c.811A>G	XP_011520867.1:p.Met271Val
XM_017023457.2:c.1105A>G	XP_016878946.1:p.Met369Val
XM_017023458.1:c.811A>G	XP_016878947.1:p.Met271Val
XR_932882.3:n.1173A>G