Canonical Allele Identifier: CA367134287

Gene: NOD1

Linked Data

• dbSNP Id: rs1436938209
• gnomAD v2: 7-30492275-A-C
• gnomAD v4: 7-30452659-A-C
• MyVariant Identifiers: chr7:g.30492275A>C (hg19) ; chr7:g.30452659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30452659A>C , CM000669.2:g.30452659A>C	GRCh38
NC_000007.13:g.30492275A>C , CM000669.1:g.30492275A>C	GRCh37
NC_000007.12:g.30458800A>C	NCBI36
NG_013025.1:g.31119T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222823.9:c.758T>G MANE Select	ENSP00000222823.4:p.Leu253Arg
ENST00000222823.8:c.758T>G	ENSP00000222823.4:p.Leu253Arg
ENST00000434755.5:c.758T>G	ENSP00000416946.1:p.Leu253Arg
NM_006092.2:c.758T>G	NP_006083.1:p.Leu253Arg
XM_005249568.1:c.758T>G	XP_005249625.1:p.Leu253Arg
XM_005249572.1:c.758T>G	XP_005249629.1:p.Leu253Arg
XM_005249576.1:c.14T>G	XP_005249633.1:p.Leu5Arg
XM_006715633.2:c.758T>G	XP_006715696.1:p.Leu253Arg
XM_011515079.1:c.758T>G	XP_011513381.1:p.Leu253Arg
XM_011515080.1:c.758T>G	XP_011513382.1:p.Leu253Arg
XM_011515081.1:c.758T>G	XP_011513383.1:p.Leu253Arg
XM_011515082.1:c.758T>G	XP_011513384.1:p.Leu253Arg
XM_011515083.1:c.758T>G	XP_011513385.1:p.Leu253Arg
XM_011515084.1:c.758T>G	XP_011513386.1:p.Leu253Arg
XM_011515085.1:c.758T>G	XP_011513387.1:p.Leu253Arg
XM_011515086.1:c.758T>G	XP_011513388.1:p.Leu253Arg
XM_011515087.1:c.758T>G	XP_011513389.1:p.Leu253Arg
XM_011515088.1:c.758T>G	XP_011513390.1:p.Leu253Arg
XR_926907.1:n.1336T>G
XR_926908.1:n.1336T>G
XR_926909.1:n.1336T>G
XR_926910.1:n.1336T>G
NM_001354849.1:c.758T>G	NP_001341778.1:p.Leu253Arg
NM_006092.3:c.758T>G	NP_006083.1:p.Leu253Arg
NR_149002.1:n.1370T>G
XM_011515080.2:c.758T>G	XP_011513382.1:p.Leu253Arg
XM_011515081.2:c.758T>G	XP_011513383.1:p.Leu253Arg
XM_011515088.2:c.758T>G	XP_011513390.1:p.Leu253Arg
XM_017011674.1:c.758T>G	XP_016867163.1:p.Leu253Arg
XR_001744529.1:n.1336T>G
XR_001744530.1:n.1336T>G
XR_002956406.1:n.1284T>G
XR_926908.2:n.1336T>G
XR_926909.2:n.1336T>G
NM_006092.4:c.758T>G MANE Select	NP_006083.1:p.Leu253Arg
NM_001354849.2:c.758T>G	NP_001341778.1:p.Leu253Arg
NR_149002.2:n.1288T>G