Canonical Allele Identifier: CA372255216

Gene: NDRG1

Linked Data

• gnomAD v4: 8-133248752-C-G
• MyVariant Identifiers: chr8:g.134260995C>G (hg19) ; chr8:g.133248752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133248752C>G , CM000670.2:g.133248752C>G	GRCh38
NC_000008.10:g.134260995C>G , CM000670.1:g.134260995C>G	GRCh37
NC_000008.9:g.134330177C>G	NCBI36
NG_007943.1:g.53504G>C , LRG_258:g.53504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323851.13:c.718G>C MANE Select	ENSP00000319977.8:p.Glu240Gln
ENST00000537882.3:c.718G>C	ENSP00000437443.2:p.Glu240Gln
ENST00000675056.1:n.48G>C
ENST00000675068.1:c.20G>C
ENST00000675172.1:c.314G>C	ENSP00000502297.1:n.314G>C
ENST00000675273.1:n.77G>C
ENST00000675860.1:n.483G>C
ENST00000676444.1:n.749G>C
ENST00000323851.11:c.718G>C	ENSP00000319977.7:p.Glu240Gln
ENST00000414097.6:c.718G>C	ENSP00000404854.2:p.Glu240Gln
ENST00000517331.5:n.436G>C
ENST00000517599.5:c.*324G>C	ENSP00000429172.1:n.*324G>C
ENST00000518066.5:c.37-6696G>C	ENSP00000431057.1:n.37-6696G>C
ENST00000518176.5:c.49-2089G>C	ENSP00000429007.1:n.49-2089G>C
ENST00000519278.5:n.1814G>C
ENST00000521414.5:n.180G>C
ENST00000521664.1:n.468G>C
ENST00000522377.5:c.*198G>C	ENSP00000429380.1:n.*198G>C
ENST00000522476.5:c.520G>C	ENSP00000427894.1:p.Glu174Gln
ENST00000522665.5:n.41G>C
ENST00000537882.2:c.475G>C	ENSP00000437443.1:p.Glu159Gln
NM_001135242.1:c.718G>C	NP_001128714.1:p.Glu240Gln
NM_001258432.1:c.520G>C	NP_001245361.1:p.Glu174Gln
NM_001258433.1:c.475G>C	NP_001245362.1:p.Glu159Gln
NM_006096.3:c.718G>C , LRG_258t1:c.718G>C	NP_006087.2:p.Glu240Gln
XM_011516791.1:c.769G>C	XP_011515093.1:p.Glu257Gln
XM_011516792.1:c.151G>C	XP_011515094.1:p.Glu51Gln
XM_011516792.2:c.151G>C	XP_011515094.1:p.Glu51Gln
NM_001135242.2:c.718G>C	NP_001128714.1:p.Glu240Gln
NM_001258432.2:c.520G>C	NP_001245361.1:p.Glu174Gln
NM_001258433.2:c.475G>C	NP_001245362.1:p.Glu159Gln
NM_001374844.1:c.769G>C	NP_001361773.1:p.Glu257Gln
NM_001374845.1:c.718G>C	NP_001361774.1:p.Glu240Gln
NM_001374846.1:c.718G>C	NP_001361775.1:p.Glu240Gln
NM_001374847.1:c.520G>C	NP_001361776.1:p.Glu174Gln
NM_006096.4:c.718G>C MANE Select	NP_006087.2:p.Glu240Gln