Canonical Allele Identifier: CA369850678

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861168-C-A
• MyVariant Identifiers: chr7:g.150558256C>A (hg19) ; chr7:g.150861168C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861168C>A , CM000669.2:g.150861168C>A	GRCh38
NC_000007.13:g.150558256C>A , CM000669.1:g.150558256C>A	GRCh37
NC_000007.12:g.150189189C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2215C>A MANE Select	ENSP00000354193.4:p.Pro739Thr
ENST00000360937.8:c.2215C>A	ENSP00000354193.4:p.Pro739Thr
ENST00000416793.6:c.2272C>A	ENSP00000411613.2:p.Pro758Thr
ENST00000467291.5:c.2215C>A	ENSP00000418328.1:p.Pro739Thr
ENST00000480582.1:n.892C>A
ENST00000493429.5:c.2215C>A	ENSP00000418614.1:p.Pro739Thr
ENST00000619575.1:c.*72C>A	ENSP00000481717.1:n.*72C>A
ENST00000622116.4:c.*207C>A	ENSP00000481520.1:n.*207C>A
NM_001091.3:c.2215C>A	NP_001082.2:p.Pro739Thr
NM_001272072.1:c.2272C>A	NP_001259001.1:p.Pro758Thr
XM_011516008.1:c.2272C>A	XP_011514310.1:p.Pro758Thr
XM_011516009.1:c.2215C>A	XP_011514311.1:p.Pro739Thr
XR_928169.1:n.295+15841G>T
XR_928170.1:n.425+7448G>T
XR_928171.1:n.297+15841G>T
XM_017011944.1:c.2272C>A	XP_016867433.1:p.Pro758Thr
XM_017011945.1:c.2272C>A	XP_016867434.1:p.Pro758Thr
XM_017011946.2:c.2272C>A	XP_016867435.1:p.Pro758Thr
XM_017011947.1:c.2215C>A	XP_016867436.1:p.Pro739Thr
XR_928169.2:n.301+15841G>T
XR_928171.2:n.301+15841G>T
NM_001091.4:c.2215C>A MANE Select	NP_001082.2:p.Pro739Thr
NM_001272072.2:c.2272C>A	NP_001259001.1:p.Pro758Thr