Canonical Allele Identifier: CA372255164

Gene: NDRG1

Linked Data

• ClinVar Variation Id: 938115
• ClinVar RCV Id: RCV001207269
• dbSNP Id: rs1276502410
• gnomAD v2: 8-134260971-T-C
• gnomAD v4: 8-133248728-T-C
• MyVariant Identifiers: chr8:g.134260971T>C (hg19) ; chr8:g.133248728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133248728T>C , CM000670.2:g.133248728T>C	GRCh38
NC_000008.10:g.134260971T>C , CM000670.1:g.134260971T>C	GRCh37
NC_000008.9:g.134330153T>C	NCBI36
NG_007943.1:g.53528A>G , LRG_258:g.53528A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323851.13:c.742A>G MANE Select	ENSP00000319977.8:p.Thr248Ala
ENST00000537882.3:c.742A>G	ENSP00000437443.2:p.Thr248Ala
ENST00000675056.1:n.72A>G
ENST00000675068.1:c.44A>G
ENST00000675172.1:c.338A>G	ENSP00000502297.1:n.338A>G
ENST00000675273.1:n.101A>G
ENST00000675860.1:n.507A>G
ENST00000676444.1:n.773A>G
ENST00000323851.11:c.742A>G	ENSP00000319977.7:p.Thr248Ala
ENST00000414097.6:c.742A>G	ENSP00000404854.2:p.Thr248Ala
ENST00000517331.5:n.460A>G
ENST00000517599.5:c.*348A>G	ENSP00000429172.1:n.*348A>G
ENST00000518066.5:c.37-6672A>G	ENSP00000431057.1:n.37-6672A>G
ENST00000518176.5:c.49-2065A>G	ENSP00000429007.1:n.49-2065A>G
ENST00000519278.5:n.1838A>G
ENST00000521414.5:n.204A>G
ENST00000521664.1:n.492A>G
ENST00000522377.5:c.*222A>G	ENSP00000429380.1:n.*222A>G
ENST00000522476.5:c.544A>G	ENSP00000427894.1:p.Thr182Ala
ENST00000522665.5:n.65A>G
ENST00000537882.2:c.499A>G	ENSP00000437443.1:p.Thr167Ala
NM_001135242.1:c.742A>G	NP_001128714.1:p.Thr248Ala
NM_001258432.1:c.544A>G	NP_001245361.1:p.Thr182Ala
NM_001258433.1:c.499A>G	NP_001245362.1:p.Thr167Ala
NM_006096.3:c.742A>G , LRG_258t1:c.742A>G	NP_006087.2:p.Thr248Ala
XM_011516791.1:c.793A>G	XP_011515093.1:p.Thr265Ala
XM_011516792.1:c.175A>G	XP_011515094.1:p.Thr59Ala
XM_011516792.2:c.175A>G	XP_011515094.1:p.Thr59Ala
NM_001135242.2:c.742A>G	NP_001128714.1:p.Thr248Ala
NM_001258432.2:c.544A>G	NP_001245361.1:p.Thr182Ala
NM_001258433.2:c.499A>G	NP_001245362.1:p.Thr167Ala
NM_001374844.1:c.793A>G	NP_001361773.1:p.Thr265Ala
NM_001374845.1:c.742A>G	NP_001361774.1:p.Thr248Ala
NM_001374846.1:c.742A>G	NP_001361775.1:p.Thr248Ala
NM_001374847.1:c.544A>G	NP_001361776.1:p.Thr182Ala
NM_006096.4:c.742A>G MANE Select	NP_006087.2:p.Thr248Ala