Canonical Allele Identifier: CA579075149

Gene: AOC1

Linked Data

• dbSNP Id: rs764459563
• gnomAD v2: 7-150558301-G-GCCCCCAGTTCCT
• gnomAD v3: 7-150861213-G-GCCCCCAGTTCCT
• gnomAD v4: 7-150861213-G-GCCCCCAGTTCCT
• MyVariant Identifiers: chr7:g.150558313_150558314insCCCCCAGTTCCT (hg19) ; chr7:g.150861225_150861226insCCCCCAGTTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861229_150861240dup , CM000669.2:g.150861229_150861240dup	GRCh38
NC_000007.13:g.150558317_150558328dup , CM000669.1:g.150558317_150558328dup	GRCh37
NC_000007.12:g.150189250_150189261dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.*20_*31dup MANE Select	ENSP00000354193.4:n.*20_*31dup
ENST00000360937.8:c.*20_*31dup	ENSP00000354193.4:n.*20_*31dup
ENST00000416793.6:c.*20_*31dup	ENSP00000411613.2:n.*20_*31dup
ENST00000467291.5:c.*20_*31dup	ENSP00000418328.1:n.*20_*31dup
ENST00000493429.5:c.*20_*31dup	ENSP00000418614.1:n.*20_*31dup
ENST00000619575.1:c.*133_*144dup	ENSP00000481717.1:n.*133_*144dup
ENST00000622116.4:c.*268_*279dup	ENSP00000481520.1:n.*268_*279dup
NM_001091.3:c.*20_*31dup	NP_001082.2:n.*20_*31dup
NM_001272072.1:c.*20_*31dup	NP_001259001.1:n.*20_*31dup
XM_011516008.1:c.*20_*31dup	XP_011514310.1:n.*20_*31dup
XM_011516009.1:c.*20_*31dup	XP_011514311.1:n.*20_*31dup
XR_928169.1:n.295+15784_295+15795dup
XR_928170.1:n.425+7391_425+7402dup
XR_928171.1:n.297+15784_297+15795dup
XM_017011944.1:c.*20_*31dup	XP_016867433.1:n.*20_*31dup
XM_017011945.1:c.*20_*31dup	XP_016867434.1:n.*20_*31dup
XM_017011946.2:c.*20_*31dup	XP_016867435.1:n.*20_*31dup
XM_017011947.1:c.*20_*31dup	XP_016867436.1:n.*20_*31dup
XR_928169.2:n.301+15784_301+15795dup
XR_928171.2:n.301+15784_301+15795dup
NM_001091.4:c.*20_*31dup MANE Select	NP_001082.2:n.*20_*31dup
NM_001272072.2:c.*20_*31dup	NP_001259001.1:n.*20_*31dup