Canonical Allele Identifier: CA4205125

Gene: NOD1

Linked Data

• dbSNP Id: rs375250487
• ExAC: 7:30492246 G / A
• gnomAD v2: 7-30492246-G-A
• gnomAD v3: 7-30452630-G-A
• gnomAD v4: 7-30452630-G-A
• MyVariant Identifiers: chr7:g.30492246G>A (hg19) ; chr7:g.30452630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30452630G>A , CM000669.2:g.30452630G>A	GRCh38
NC_000007.13:g.30492246G>A , CM000669.1:g.30492246G>A	GRCh37
NC_000007.12:g.30458771G>A	NCBI36
NG_013025.1:g.31148C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222823.9:c.787C>T MANE Select	ENSP00000222823.4:p.Arg263Trp
ENST00000222823.8:c.787C>T	ENSP00000222823.4:p.Arg263Trp
ENST00000434755.5:c.787C>T	ENSP00000416946.1:p.Arg263Trp
NM_006092.2:c.787C>T	NP_006083.1:p.Arg263Trp
XM_005249568.1:c.787C>T	XP_005249625.1:p.Arg263Trp
XM_005249572.1:c.787C>T	XP_005249629.1:p.Arg263Trp
XM_005249576.1:c.43C>T	XP_005249633.1:p.Arg15Trp
XM_006715633.2:c.787C>T	XP_006715696.1:p.Arg263Trp
XM_011515079.1:c.787C>T	XP_011513381.1:p.Arg263Trp
XM_011515080.1:c.787C>T	XP_011513382.1:p.Arg263Trp
XM_011515081.1:c.787C>T	XP_011513383.1:p.Arg263Trp
XM_011515082.1:c.787C>T	XP_011513384.1:p.Arg263Trp
XM_011515083.1:c.787C>T	XP_011513385.1:p.Arg263Trp
XM_011515084.1:c.787C>T	XP_011513386.1:p.Arg263Trp
XM_011515085.1:c.787C>T	XP_011513387.1:p.Arg263Trp
XM_011515086.1:c.787C>T	XP_011513388.1:p.Arg263Trp
XM_011515087.1:c.787C>T	XP_011513389.1:p.Arg263Trp
XM_011515088.1:c.787C>T	XP_011513390.1:p.Arg263Trp
XR_926907.1:n.1365C>T
XR_926908.1:n.1365C>T
XR_926909.1:n.1365C>T
XR_926910.1:n.1365C>T
NM_001354849.1:c.787C>T	NP_001341778.1:p.Arg263Trp
NM_006092.3:c.787C>T	NP_006083.1:p.Arg263Trp
NR_149002.1:n.1399C>T
XM_011515080.2:c.787C>T	XP_011513382.1:p.Arg263Trp
XM_011515081.2:c.787C>T	XP_011513383.1:p.Arg263Trp
XM_011515088.2:c.787C>T	XP_011513390.1:p.Arg263Trp
XM_017011674.1:c.787C>T	XP_016867163.1:p.Arg263Trp
XR_001744529.1:n.1365C>T
XR_001744530.1:n.1365C>T
XR_002956406.1:n.1313C>T
XR_926908.2:n.1365C>T
XR_926909.2:n.1365C>T
NM_006092.4:c.787C>T MANE Select	NP_006083.1:p.Arg263Trp
NM_001354849.2:c.787C>T	NP_001341778.1:p.Arg263Trp
NR_149002.2:n.1317C>T