Canonical Allele Identifier: CA367134309

Gene: NOD1

Linked Data

• MyVariant Identifiers: chr7:g.30492284A>T (hg19) ; chr7:g.30452668A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30452668A>T , CM000669.2:g.30452668A>T	GRCh38
NC_000007.13:g.30492284A>T , CM000669.1:g.30492284A>T	GRCh37
NC_000007.12:g.30458809A>T	NCBI36
NG_013025.1:g.31110T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222823.9:c.749T>A MANE Select	ENSP00000222823.4:p.Leu250Gln
ENST00000222823.8:c.749T>A	ENSP00000222823.4:p.Leu250Gln
ENST00000434755.5:c.749T>A	ENSP00000416946.1:p.Leu250Gln
NM_006092.2:c.749T>A	NP_006083.1:p.Leu250Gln
XM_005249568.1:c.749T>A	XP_005249625.1:p.Leu250Gln
XM_005249572.1:c.749T>A	XP_005249629.1:p.Leu250Gln
XM_005249576.1:c.10-5T>A	XP_005249633.1:n.10-5T>A
XM_006715633.2:c.749T>A	XP_006715696.1:p.Leu250Gln
XM_011515079.1:c.749T>A	XP_011513381.1:p.Leu250Gln
XM_011515080.1:c.749T>A	XP_011513382.1:p.Leu250Gln
XM_011515081.1:c.749T>A	XP_011513383.1:p.Leu250Gln
XM_011515082.1:c.749T>A	XP_011513384.1:p.Leu250Gln
XM_011515083.1:c.749T>A	XP_011513385.1:p.Leu250Gln
XM_011515084.1:c.749T>A	XP_011513386.1:p.Leu250Gln
XM_011515085.1:c.749T>A	XP_011513387.1:p.Leu250Gln
XM_011515086.1:c.749T>A	XP_011513388.1:p.Leu250Gln
XM_011515087.1:c.749T>A	XP_011513389.1:p.Leu250Gln
XM_011515088.1:c.749T>A	XP_011513390.1:p.Leu250Gln
XR_926907.1:n.1327T>A
XR_926908.1:n.1327T>A
XR_926909.1:n.1327T>A
XR_926910.1:n.1327T>A
NM_001354849.1:c.749T>A	NP_001341778.1:p.Leu250Gln
NM_006092.3:c.749T>A	NP_006083.1:p.Leu250Gln
NR_149002.1:n.1361T>A
XM_011515080.2:c.749T>A	XP_011513382.1:p.Leu250Gln
XM_011515081.2:c.749T>A	XP_011513383.1:p.Leu250Gln
XM_011515088.2:c.749T>A	XP_011513390.1:p.Leu250Gln
XM_017011674.1:c.749T>A	XP_016867163.1:p.Leu250Gln
XR_001744529.1:n.1327T>A
XR_001744530.1:n.1327T>A
XR_002956406.1:n.1275T>A
XR_926908.2:n.1327T>A
XR_926909.2:n.1327T>A
NM_006092.4:c.749T>A MANE Select	NP_006083.1:p.Leu250Gln
NM_001354849.2:c.749T>A	NP_001341778.1:p.Leu250Gln
NR_149002.2:n.1279T>A