Canonical Allele Identifier: CA458644477
Gene: AOC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150558282C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861194C>G , CM000669.2:g.150861194C>G GRCh38
NC_000007.13:g.150558282C>G , CM000669.1:g.150558282C>G GRCh37
NC_000007.12:g.150189215C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.2241C>G MANE Select ENSP00000354193.4:p.Thr747=
ENST00000360937.8:c.2241C>G ENSP00000354193.4:p.Thr747=
ENST00000416793.6:c.2298C>G ENSP00000411613.2:p.Thr766=
ENST00000467291.5:c.2241C>G ENSP00000418328.1:p.Thr747=
ENST00000480582.1:n.918C>G
ENST00000493429.5:c.2241C>G ENSP00000418614.1:p.Thr747=
ENST00000619575.1:c.*98C>G ENSP00000481717.1:n.*98C>G
ENST00000622116.4:c.*233C>G ENSP00000481520.1:n.*233C>G
NM_001091.3:c.2241C>G NP_001082.2:p.Thr747=
NM_001272072.1:c.2298C>G NP_001259001.1:p.Thr766=
XM_011516008.1:c.2298C>G XP_011514310.1:p.Thr766=
XM_011516009.1:c.2241C>G XP_011514311.1:p.Thr747=
XR_928169.1:n.295+15815G>C
XR_928170.1:n.425+7422G>C
XR_928171.1:n.297+15815G>C
XM_017011944.1:c.2298C>G XP_016867433.1:p.Thr766=
XM_017011945.1:c.2298C>G XP_016867434.1:p.Thr766=
XM_017011946.2:c.2298C>G XP_016867435.1:p.Thr766=
XM_017011947.1:c.2241C>G XP_016867436.1:p.Thr747=
XR_928169.2:n.301+15815G>C
XR_928171.2:n.301+15815G>C
NM_001091.4:c.2241C>G MANE Select NP_001082.2:p.Thr747=
NM_001272072.2:c.2298C>G NP_001259001.1:p.Thr766=