Canonical Allele Identifier: CA369850671

Gene: AOC1

Linked Data

• dbSNP Id: rs1475640279
• gnomAD v2: 7-150558254-T-A
• gnomAD v4: 7-150861166-T-A
• MyVariant Identifiers: chr7:g.150558254T>A (hg19) ; chr7:g.150861166T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861166T>A , CM000669.2:g.150861166T>A	GRCh38
NC_000007.13:g.150558254T>A , CM000669.1:g.150558254T>A	GRCh37
NC_000007.12:g.150189187T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2213T>A MANE Select	ENSP00000354193.4:p.Met738Lys
ENST00000360937.8:c.2213T>A	ENSP00000354193.4:p.Met738Lys
ENST00000416793.6:c.2270T>A	ENSP00000411613.2:p.Met757Lys
ENST00000467291.5:c.2213T>A	ENSP00000418328.1:p.Met738Lys
ENST00000480582.1:n.890T>A
ENST00000493429.5:c.2213T>A	ENSP00000418614.1:p.Met738Lys
ENST00000619575.1:c.*70T>A	ENSP00000481717.1:n.*70T>A
ENST00000622116.4:c.*205T>A	ENSP00000481520.1:n.*205T>A
NM_001091.3:c.2213T>A	NP_001082.2:p.Met738Lys
NM_001272072.1:c.2270T>A	NP_001259001.1:p.Met757Lys
XM_011516008.1:c.2270T>A	XP_011514310.1:p.Met757Lys
XM_011516009.1:c.2213T>A	XP_011514311.1:p.Met738Lys
XR_928169.1:n.295+15843A>T
XR_928170.1:n.425+7450A>T
XR_928171.1:n.297+15843A>T
XM_017011944.1:c.2270T>A	XP_016867433.1:p.Met757Lys
XM_017011945.1:c.2270T>A	XP_016867434.1:p.Met757Lys
XM_017011946.2:c.2270T>A	XP_016867435.1:p.Met757Lys
XM_017011947.1:c.2213T>A	XP_016867436.1:p.Met738Lys
XR_928169.2:n.301+15843A>T
XR_928171.2:n.301+15843A>T
NM_001091.4:c.2213T>A MANE Select	NP_001082.2:p.Met738Lys
NM_001272072.2:c.2270T>A	NP_001259001.1:p.Met757Lys