Canonical Allele Identifier: CA579075153

Gene: AOC1

Linked Data

• dbSNP Id: rs1251516759
• gnomAD v2: 7-150558325-T-TCCCAGGAAG
• MyVariant Identifiers: chr7:g.150558325_150558326insCCCAGGAAG (hg19) ; chr7:g.150861237_150861238insCCCAGGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861245_150861253dup , CM000669.2:g.150861245_150861253dup	GRCh38
NC_000007.13:g.150558333_150558341dup , CM000669.1:g.150558333_150558341dup	GRCh37
NC_000007.12:g.150189266_150189274dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*36_*44dup MANE Select	ENSP00000354193.4:n.*36_*44dup
ENST00000360937.8:c.*36_*44dup	ENSP00000354193.4:n.*36_*44dup
ENST00000416793.6:c.*36_*44dup	ENSP00000411613.2:n.*36_*44dup
ENST00000467291.5:c.*36_*44dup	ENSP00000418328.1:n.*36_*44dup
ENST00000493429.5:c.*36_*44dup	ENSP00000418614.1:n.*36_*44dup
ENST00000619575.1:c.*149_*157dup	ENSP00000481717.1:n.*149_*157dup
ENST00000622116.4:c.*284_*292dup	ENSP00000481520.1:n.*284_*292dup
NM_001091.3:c.*36_*44dup	NP_001082.2:n.*36_*44dup
NM_001272072.1:c.*36_*44dup	NP_001259001.1:n.*36_*44dup
XM_011516008.1:c.*36_*44dup	XP_011514310.1:n.*36_*44dup
XM_011516009.1:c.*36_*44dup	XP_011514311.1:n.*36_*44dup
XR_928169.1:n.295+15763_295+15771dup
XR_928170.1:n.425+7370_425+7378dup
XR_928171.1:n.297+15763_297+15771dup
XM_017011944.1:c.*36_*44dup	XP_016867433.1:n.*36_*44dup
XM_017011945.1:c.*36_*44dup	XP_016867434.1:n.*36_*44dup
XM_017011946.2:c.*36_*44dup	XP_016867435.1:n.*36_*44dup
XM_017011947.1:c.*36_*44dup	XP_016867436.1:n.*36_*44dup
XR_928169.2:n.301+15763_301+15771dup
XR_928171.2:n.301+15763_301+15771dup
NM_001091.4:c.*36_*44dup MANE Select	NP_001082.2:n.*36_*44dup
NM_001272072.2:c.*36_*44dup	NP_001259001.1:n.*36_*44dup