Canonical Allele Identifier: CA4566158

Gene: AOC1

Linked Data

• ClinVar Variation Id: 2286899
• ClinVar RCV Id: RCV004138954
• dbSNP Id: rs374941578
• ExAC: 7:150555017 G / A
• gnomAD v2: 7-150555017-G-A
• gnomAD v3: 7-150857929-G-A
• gnomAD v4: 7-150857929-G-A
• MyVariant Identifiers: chr7:g.150555017G>A (hg19) ; chr7:g.150857929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857929G>A , CM000669.2:g.150857929G>A	GRCh38
NC_000007.13:g.150555017G>A , CM000669.1:g.150555017G>A	GRCh37
NC_000007.12:g.150185950G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.1459G>A MANE Select	ENSP00000354193.4:p.Ala487Thr
ENST00000360937.8:c.1459G>A	ENSP00000354193.4:p.Ala487Thr
ENST00000416793.6:c.1459G>A	ENSP00000411613.2:p.Ala487Thr
ENST00000467291.5:c.1459G>A	ENSP00000418328.1:p.Ala487Thr
ENST00000493429.5:c.1459G>A	ENSP00000418614.1:p.Ala487Thr
ENST00000619575.1:c.1456G>A	ENSP00000481717.1:p.Ala486Thr
ENST00000622116.4:c.37G>A	ENSP00000481520.1:p.Ala13Thr
NM_001091.3:c.1459G>A	NP_001082.2:p.Ala487Thr
NM_001272072.1:c.1459G>A	NP_001259001.1:p.Ala487Thr
XM_011516008.1:c.1459G>A	XP_011514310.1:p.Ala487Thr
XM_011516009.1:c.1459G>A	XP_011514311.1:p.Ala487Thr
XR_928169.1:n.296-16484C>T
XR_928170.1:n.425+10687C>T
XR_928171.1:n.298-16484C>T
XM_017011944.1:c.1459G>A	XP_016867433.1:p.Ala487Thr
XM_017011945.1:c.1459G>A	XP_016867434.1:p.Ala487Thr
XM_017011946.2:c.1459G>A	XP_016867435.1:p.Ala487Thr
XM_017011947.1:c.1459G>A	XP_016867436.1:p.Ala487Thr
XR_928169.2:n.302-16484C>T
XR_928171.2:n.302-16484C>T
NM_001091.4:c.1459G>A MANE Select	NP_001082.2:p.Ala487Thr
NM_001272072.2:c.1459G>A	NP_001259001.1:p.Ala487Thr