Canonical Allele Identifier: CA372255148

Gene: NDRG1

Linked Data

• ClinVar Variation Id: 991556
• ClinVar RCV Id: RCV001279784
• dbSNP Id: rs1855837616
• gnomAD v4: 8-133248719-G-C
• MyVariant Identifiers: chr8:g.134260962G>C (hg19) ; chr8:g.133248719G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133248719G>C , CM000670.2:g.133248719G>C	GRCh38
NC_000008.10:g.134260962G>C , CM000670.1:g.134260962G>C	GRCh37
NC_000008.9:g.134330144G>C	NCBI36
NG_007943.1:g.53537C>G , LRG_258:g.53537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323851.13:c.751C>G MANE Select	ENSP00000319977.8:p.Leu251Val
ENST00000537882.3:c.751C>G	ENSP00000437443.2:p.Leu251Val
ENST00000675056.1:n.81C>G
ENST00000675068.1:c.53C>G
ENST00000675172.1:c.347C>G	ENSP00000502297.1:n.347C>G
ENST00000675273.1:n.110C>G
ENST00000675860.1:n.516C>G
ENST00000323851.11:c.751C>G	ENSP00000319977.7:p.Leu251Val
ENST00000414097.6:c.751C>G	ENSP00000404854.2:p.Leu251Val
ENST00000517331.5:n.469C>G
ENST00000517599.5:c.*357C>G	ENSP00000429172.1:n.*357C>G
ENST00000518066.5:c.37-6663C>G	ENSP00000431057.1:n.37-6663C>G
ENST00000518176.5:c.49-2056C>G	ENSP00000429007.1:n.49-2056C>G
ENST00000519278.5:n.1847C>G
ENST00000521414.5:n.213C>G
ENST00000521664.1:n.501C>G
ENST00000522377.5:c.*231C>G	ENSP00000429380.1:n.*231C>G
ENST00000522476.5:c.553C>G	ENSP00000427894.1:p.Leu185Val
ENST00000522665.5:n.74C>G
ENST00000537882.2:c.508C>G	ENSP00000437443.1:p.Leu170Val
NM_001135242.1:c.751C>G	NP_001128714.1:p.Leu251Val
NM_001258432.1:c.553C>G	NP_001245361.1:p.Leu185Val
NM_001258433.1:c.508C>G	NP_001245362.1:p.Leu170Val
NM_006096.3:c.751C>G , LRG_258t1:c.751C>G	NP_006087.2:p.Leu251Val
XM_011516791.1:c.802C>G	XP_011515093.1:p.Leu268Val
XM_011516792.1:c.184C>G	XP_011515094.1:p.Leu62Val
XM_011516792.2:c.184C>G	XP_011515094.1:p.Leu62Val
NM_001135242.2:c.751C>G	NP_001128714.1:p.Leu251Val
NM_001258432.2:c.553C>G	NP_001245361.1:p.Leu185Val
NM_001258433.2:c.508C>G	NP_001245362.1:p.Leu170Val
NM_001374844.1:c.802C>G	NP_001361773.1:p.Leu268Val
NM_001374845.1:c.751C>G	NP_001361774.1:p.Leu251Val
NM_001374846.1:c.751C>G	NP_001361775.1:p.Leu251Val
NM_001374847.1:c.553C>G	NP_001361776.1:p.Leu185Val
NM_006096.4:c.751C>G MANE Select	NP_006087.2:p.Leu251Val