Canonical Allele Identifier: CA169076495

Gene: AOC1

Linked Data

• dbSNP Id: rs573958728
• gnomAD v3: 7-150857590-G-A
• gnomAD v4: 7-150857590-G-A
• MyVariant Identifiers: chr7:g.150554678G>A (hg19) ; chr7:g.150857590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857590G>A , CM000669.2:g.150857590G>A	GRCh38
NC_000007.13:g.150554678G>A , CM000669.1:g.150554678G>A	GRCh37
NC_000007.12:g.150185611G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.1120G>A MANE Select	ENSP00000354193.4:p.Val374Ile
ENST00000360937.8:c.1120G>A	ENSP00000354193.4:p.Val374Ile
ENST00000416793.6:c.1120G>A	ENSP00000411613.2:p.Val374Ile
ENST00000467291.5:c.1120G>A	ENSP00000418328.1:p.Val374Ile
ENST00000493429.5:c.1120G>A	ENSP00000418614.1:p.Val374Ile
ENST00000619575.1:c.1117G>A	ENSP00000481717.1:p.Val373Ile
ENST00000622116.4:c.-303G>A	ENSP00000481520.1:n.-303G>A
NM_001091.3:c.1120G>A	NP_001082.2:p.Val374Ile
NM_001272072.1:c.1120G>A	NP_001259001.1:p.Val374Ile
XM_011516008.1:c.1120G>A	XP_011514310.1:p.Val374Ile
XM_011516009.1:c.1120G>A	XP_011514311.1:p.Val374Ile
XR_928169.1:n.296-16145C>T
XR_928170.1:n.425+11026C>T
XR_928171.1:n.298-16145C>T
XM_017011944.1:c.1120G>A	XP_016867433.1:p.Val374Ile
XM_017011945.1:c.1120G>A	XP_016867434.1:p.Val374Ile
XM_017011946.2:c.1120G>A	XP_016867435.1:p.Val374Ile
XM_017011947.1:c.1120G>A	XP_016867436.1:p.Val374Ile
XR_928169.2:n.302-16145C>T
XR_928171.2:n.302-16145C>T
NM_001091.4:c.1120G>A MANE Select	NP_001082.2:p.Val374Ile
NM_001272072.2:c.1120G>A	NP_001259001.1:p.Val374Ile