Canonical Allele Identifier: CA16295854
Gene: NOD1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30433407C>T , CM000669.2:g.30433407C>T GRCh38
NC_000007.13:g.30473023C>T , CM000669.1:g.30473023C>T GRCh37
NC_000007.12:g.30439548C>T NCBI36
NG_013025.1:g.50371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222823.9:c.2622-228G>A MANE Select ENSP00000222823.4:n.2622-228G>A
ENST00000222823.8:c.2622-228G>A ENSP00000222823.4:n.2622-228G>A
ENST00000434755.5:c.*332-228G>A ENSP00000416946.1:n.*332-228G>A
ENST00000467706.1:n.8G>A
ENST00000489614.5:n.1838-3950G>A
NM_006092.2:c.2622-228G>A NP_006083.1:n.2622-228G>A
XM_005249568.1:c.2622-228G>A XP_005249625.1:n.2622-228G>A
XM_005249572.1:c.2622-228G>A XP_005249629.1:n.2622-228G>A
XM_005249576.1:c.1878-228G>A XP_005249633.1:n.1878-228G>A
XM_006715633.2:c.2622-228G>A XP_006715696.1:n.2622-228G>A
XM_011515079.1:c.2622-228G>A XP_011513381.1:n.2622-228G>A
XM_011515080.1:c.2622-228G>A XP_011513382.1:n.2622-228G>A
XM_011515081.1:c.2622-228G>A XP_011513383.1:n.2622-228G>A
XM_011515082.1:c.2619-228G>A XP_011513384.1:n.2619-228G>A
XM_011515083.1:c.2574-228G>A XP_011513385.1:n.2574-228G>A
XM_011515084.1:c.2538-228G>A XP_011513386.1:n.2538-228G>A
XM_011515085.1:c.2454-3950G>A XP_011513387.1:n.2454-3950G>A
XM_011515086.1:c.2454-7697G>A XP_011513388.1:n.2454-7697G>A
XR_926907.1:n.3200-228G>A
NM_001354849.1:c.2538-228G>A NP_001341778.1:n.2538-228G>A
NM_006092.3:c.2622-228G>A NP_006083.1:n.2622-228G>A
NR_149002.1:n.3284-228G>A
XM_011515080.2:c.2622-228G>A XP_011513382.1:n.2622-228G>A
XM_011515081.2:c.2622-228G>A XP_011513383.1:n.2622-228G>A
XM_017011674.1:c.2622-228G>A XP_016867163.1:n.2622-228G>A
XR_002956406.1:n.4969-3950G>A
XR_926908.2:n.3250-228G>A
NM_006092.4:c.2622-228G>A MANE Select NP_006083.1:n.2622-228G>A
NM_001354849.2:c.2538-228G>A NP_001341778.1:n.2538-228G>A
NR_149002.2:n.3202-228G>A