Canonical Allele Identifier: CA458644481
Gene: AOC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150558291T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861203T>G , CM000669.2:g.150861203T>G GRCh38
NC_000007.13:g.150558291T>G , CM000669.1:g.150558291T>G GRCh37
NC_000007.12:g.150189224T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.2250T>G MANE Select ENSP00000354193.4:p.Pro750=
ENST00000360937.8:c.2250T>G ENSP00000354193.4:p.Pro750=
ENST00000416793.6:c.2307T>G ENSP00000411613.2:p.Pro769=
ENST00000467291.5:c.2250T>G ENSP00000418328.1:p.Pro750=
ENST00000480582.1:n.927T>G
ENST00000493429.5:c.2250T>G ENSP00000418614.1:p.Pro750=
ENST00000619575.1:c.*107T>G ENSP00000481717.1:n.*107T>G
ENST00000622116.4:c.*242T>G ENSP00000481520.1:n.*242T>G
NM_001091.3:c.2250T>G NP_001082.2:p.Pro750=
NM_001272072.1:c.2307T>G NP_001259001.1:p.Pro769=
XM_011516008.1:c.2307T>G XP_011514310.1:p.Pro769=
XM_011516009.1:c.2250T>G XP_011514311.1:p.Pro750=
XR_928169.1:n.295+15806A>C
XR_928170.1:n.425+7413A>C
XR_928171.1:n.297+15806A>C
XM_017011944.1:c.2307T>G XP_016867433.1:p.Pro769=
XM_017011945.1:c.2307T>G XP_016867434.1:p.Pro769=
XM_017011946.2:c.2307T>G XP_016867435.1:p.Pro769=
XM_017011947.1:c.2250T>G XP_016867436.1:p.Pro750=
XR_928169.2:n.301+15806A>C
XR_928171.2:n.301+15806A>C
NM_001091.4:c.2250T>G MANE Select NP_001082.2:p.Pro750=
NM_001272072.2:c.2307T>G NP_001259001.1:p.Pro769=