Canonical Allele Identifier: CA394673720

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082562C>T , CM000678.2:g.5082562C>T	GRCh38
NC_000016.9:g.5132563C>T , CM000678.1:g.5132563C>T	GRCh37
NC_000016.8:g.5072564C>T	NCBI36
NG_009202.1:g.15754C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1076C>T MANE Select	NP_061982.3:p.Ser359Leu
ENST00000262374.10:c.1076C>T MANE Select	ENSP00000262374.5:p.Ser359Leu
NM_001330504.1:c.743C>T	NP_001317433.1:p.Ser248Leu
NM_001330504.2:c.743C>T	NP_001317433.1:p.Ser248Leu
NM_019109.4:c.1076C>T	NP_061982.3:p.Ser359Leu
ENST00000262374.9:c.1076C>T	ENSP00000262374.4:p.Ser359Leu
ENST00000544428.1:c.743C>T	ENSP00000440019.1:p.Ser248Leu
ENST00000588623.5:c.743C>T	ENSP00000468118.1:p.Ser248Leu
ENST00000591822.5:c.*977C>T	ENSP00000467865.1:n.*977C>T
ENST00000592793.6:n.3212C>T
ENST00000650085.1:n.1900C>T
ENST00000682020.1:c.482C>T	ENSP00000508075.1:p.Ser161Leu
ENST00000682206.1:c.*171C>T	ENSP00000508285.1:n.*171C>T
ENST00000682314.1:n.1124C>T
ENST00000682327.1:c.548C>T	ENSP00000507058.1:p.Ser183Leu
ENST00000682349.1:n.3218C>T
ENST00000682703.1:n.4044C>T
ENST00000682797.1:c.*168C>T	ENSP00000507582.1:n.*168C>T
ENST00000682985.1:c.587C>T	ENSP00000507598.1:p.Ser196Leu
ENST00000683433.1:c.335C>T	ENSP00000507463.1:p.Ser112Leu
ENST00000683685.1:n.1950C>T
ENST00000683710.1:c.*1043C>T	ENSP00000506785.1:n.*1043C>T
ENST00000683739.1:c.743C>T	ENSP00000507002.1:p.Ser248Leu
ENST00000683772.1:n.1120C>T
ENST00000684008.1:c.1014C>T	ENSP00000507962.1:n.1014C>T
ENST00000684190.1:c.1037C>T	ENSP00000507554.1:p.Ser346Leu
ENST00000684335.1:c.965C>T	ENSP00000508112.1:p.Ser322Leu
XM_011522565.1:c.743C>T	XP_011520867.1:p.Ser248Leu
XM_017023457.2:c.1037C>T	XP_016878946.1:p.Ser346Leu
XM_017023458.1:c.743C>T	XP_016878947.1:p.Ser248Leu
XR_932882.3:n.1105C>T