Canonical Allele Identifier: CA4566406

Gene: AOC1

Linked Data

• dbSNP Id: rs768456671
• ExAC: 7:150558318 C / T
• gnomAD v2: 7-150558318-C-T
• gnomAD v3: 7-150861230-C-T
• gnomAD v4: 7-150861230-C-T
• MyVariant Identifiers: chr7:g.150558318C>T (hg19) ; chr7:g.150861230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861230C>T , CM000669.2:g.150861230C>T	GRCh38
NC_000007.13:g.150558318C>T , CM000669.1:g.150558318C>T	GRCh37
NC_000007.12:g.150189251C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.*21C>T MANE Select	ENSP00000354193.4:n.*21C>T
ENST00000360937.8:c.*21C>T	ENSP00000354193.4:n.*21C>T
ENST00000416793.6:c.*21C>T	ENSP00000411613.2:n.*21C>T
ENST00000467291.5:c.*21C>T	ENSP00000418328.1:n.*21C>T
ENST00000493429.5:c.*21C>T	ENSP00000418614.1:n.*21C>T
ENST00000619575.1:c.*134C>T	ENSP00000481717.1:n.*134C>T
ENST00000622116.4:c.*269C>T	ENSP00000481520.1:n.*269C>T
NM_001091.3:c.*21C>T	NP_001082.2:n.*21C>T
NM_001272072.1:c.*21C>T	NP_001259001.1:n.*21C>T
XM_011516008.1:c.*21C>T	XP_011514310.1:n.*21C>T
XM_011516009.1:c.*21C>T	XP_011514311.1:n.*21C>T
XR_928169.1:n.295+15779G>A
XR_928170.1:n.425+7386G>A
XR_928171.1:n.297+15779G>A
XM_017011944.1:c.*21C>T	XP_016867433.1:n.*21C>T
XM_017011945.1:c.*21C>T	XP_016867434.1:n.*21C>T
XM_017011946.2:c.*21C>T	XP_016867435.1:n.*21C>T
XM_017011947.1:c.*21C>T	XP_016867436.1:n.*21C>T
XR_928169.2:n.301+15779G>A
XR_928171.2:n.301+15779G>A
NM_001091.4:c.*21C>T MANE Select	NP_001082.2:n.*21C>T
NM_001272072.2:c.*21C>T	NP_001259001.1:n.*21C>T