Canonical Allele Identifier: CA4565936

Gene: AOC1

Linked Data

• ClinVar Variation Id: 2482593
• ClinVar RCV Id: RCV004272258
• dbSNP Id: rs753795261
• ExAC: 7:150554166 T / C
• gnomAD v2: 7-150554166-T-C
• gnomAD v3: 7-150857078-T-C
• gnomAD v4: 7-150857078-T-C
• MyVariant Identifiers: chr7:g.150554166T>C (hg19) ; chr7:g.150857078T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857078T>C , CM000669.2:g.150857078T>C	GRCh38
NC_000007.13:g.150554166T>C , CM000669.1:g.150554166T>C	GRCh37
NC_000007.12:g.150185099T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.608T>C MANE Select	ENSP00000354193.4:p.Ile203Thr
ENST00000360937.8:c.608T>C	ENSP00000354193.4:p.Ile203Thr
ENST00000416793.6:c.608T>C	ENSP00000411613.2:p.Ile203Thr
ENST00000460213.1:c.608T>C	ENSP00000418557.1:p.Ile203Thr
ENST00000467291.5:c.608T>C	ENSP00000418328.1:p.Ile203Thr
ENST00000483043.1:c.608T>C	ENSP00000417392.1:p.Ile203Thr
ENST00000493429.5:c.608T>C	ENSP00000418614.1:p.Ile203Thr
ENST00000619575.1:c.608T>C	ENSP00000481717.1:p.Ile203Thr
ENST00000622116.4:c.-815T>C	ENSP00000481520.1:n.-815T>C
NM_001091.3:c.608T>C	NP_001082.2:p.Ile203Thr
NM_001272072.1:c.608T>C	NP_001259001.1:p.Ile203Thr
XM_011516008.1:c.608T>C	XP_011514310.1:p.Ile203Thr
XM_011516009.1:c.608T>C	XP_011514311.1:p.Ile203Thr
XR_928169.1:n.296-15633A>G
XR_928170.1:n.425+11538A>G
XR_928171.1:n.298-15633A>G
XM_017011944.1:c.608T>C	XP_016867433.1:p.Ile203Thr
XM_017011945.1:c.608T>C	XP_016867434.1:p.Ile203Thr
XM_017011946.2:c.608T>C	XP_016867435.1:p.Ile203Thr
XM_017011947.1:c.608T>C	XP_016867436.1:p.Ile203Thr
XR_928169.2:n.302-15633A>G
XR_928171.2:n.302-15633A>G
NM_001091.4:c.608T>C MANE Select	NP_001082.2:p.Ile203Thr
NM_001272072.2:c.608T>C	NP_001259001.1:p.Ile203Thr