Canonical Allele Identifier: CA367133155
Gene: NOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1474675032
gnomAD v2: 7-30491769-T-C
gnomAD v4: 7-30452153-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30452153T>C , CM000669.2:g.30452153T>C GRCh38
NC_000007.13:g.30491769T>C , CM000669.1:g.30491769T>C GRCh37
NC_000007.12:g.30458294T>C NCBI36
NG_013025.1:g.31625A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222823.9:c.1264A>G MANE Select ENSP00000222823.4:p.Thr422Ala
ENST00000222823.8:c.1264A>G ENSP00000222823.4:p.Thr422Ala
ENST00000434755.5:c.1264A>G ENSP00000416946.1:p.Thr422Ala
NM_006092.2:c.1264A>G NP_006083.1:p.Thr422Ala
XM_005249568.1:c.1264A>G XP_005249625.1:p.Thr422Ala
XM_005249572.1:c.1264A>G XP_005249629.1:p.Thr422Ala
XM_005249576.1:c.520A>G XP_005249633.1:p.Thr174Ala
XM_006715633.2:c.1264A>G XP_006715696.1:p.Thr422Ala
XM_011515079.1:c.1264A>G XP_011513381.1:p.Thr422Ala
XM_011515080.1:c.1264A>G XP_011513382.1:p.Thr422Ala
XM_011515081.1:c.1264A>G XP_011513383.1:p.Thr422Ala
XM_011515082.1:c.1264A>G XP_011513384.1:p.Thr422Ala
XM_011515083.1:c.1264A>G XP_011513385.1:p.Thr422Ala
XM_011515084.1:c.1264A>G XP_011513386.1:p.Thr422Ala
XM_011515085.1:c.1264A>G XP_011513387.1:p.Thr422Ala
XM_011515086.1:c.1264A>G XP_011513388.1:p.Thr422Ala
XM_011515087.1:c.1264A>G XP_011513389.1:p.Thr422Ala
XM_011515088.1:c.1264A>G XP_011513390.1:p.Thr422Ala
XR_926907.1:n.1842A>G
XR_926908.1:n.1842A>G
XR_926909.1:n.1842A>G
XR_926910.1:n.1842A>G
NM_001354849.1:c.1264A>G NP_001341778.1:p.Thr422Ala
NM_006092.3:c.1264A>G NP_006083.1:p.Thr422Ala
NR_149002.1:n.1876A>G
XM_011515080.2:c.1264A>G XP_011513382.1:p.Thr422Ala
XM_011515081.2:c.1264A>G XP_011513383.1:p.Thr422Ala
XM_011515088.2:c.1264A>G XP_011513390.1:p.Thr422Ala
XM_017011674.1:c.1264A>G XP_016867163.1:p.Thr422Ala
XR_001744529.1:n.1842A>G
XR_001744530.1:n.1842A>G
XR_002956406.1:n.1790A>G
XR_926908.2:n.1842A>G
XR_926909.2:n.1842A>G
NM_006092.4:c.1264A>G MANE Select NP_006083.1:p.Thr422Ala
NM_001354849.2:c.1264A>G NP_001341778.1:p.Thr422Ala
NR_149002.2:n.1794A>G