Canonical Allele Identifier: CA2967119540

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861175dup , CM000669.2:g.150861175dup	GRCh38
NC_000007.13:g.150558263dup , CM000669.1:g.150558263dup	GRCh37
NC_000007.12:g.150189196dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2222dup MANE Select	ENSP00000354193.4:p.Ser743Ter
ENST00000360937.8:c.2222dup	ENSP00000354193.4:p.Ser743Ter
ENST00000416793.6:c.2279dup	ENSP00000411613.2:p.Ser762Ter
ENST00000467291.5:c.2222dup	ENSP00000418328.1:p.Ser743Ter
ENST00000480582.1:n.899dup
ENST00000493429.5:c.2222dup	ENSP00000418614.1:p.Ser743Ter
ENST00000619575.1:c.*79dup	ENSP00000481717.1:n.*79dup
ENST00000622116.4:c.*214dup	ENSP00000481520.1:n.*214dup
NM_001091.3:c.2222dup	NP_001082.2:p.Ser743Ter
NM_001272072.1:c.2279dup	NP_001259001.1:p.Ser762Ter
XM_011516008.1:c.2279dup	XP_011514310.1:p.Ser762Ter
XM_011516009.1:c.2222dup	XP_011514311.1:p.Ser743Ter
XR_928169.1:n.295+15838dup
XR_928170.1:n.425+7445dup
XR_928171.1:n.297+15838dup
XM_017011944.1:c.2279dup	XP_016867433.1:p.Ser762Ter
XM_017011945.1:c.2279dup	XP_016867434.1:p.Ser762Ter
XM_017011946.2:c.2279dup	XP_016867435.1:p.Ser762Ter
XM_017011947.1:c.2222dup	XP_016867436.1:p.Ser743Ter
XR_928169.2:n.301+15838dup
XR_928171.2:n.301+15838dup
NM_001091.4:c.2222dup MANE Select	NP_001082.2:p.Ser743Ter
NM_001272072.2:c.2279dup	NP_001259001.1:p.Ser762Ter