Canonical Allele Identifier: CA4886755

Gene: NDRG1

Linked Data

• ClinVar Variation Id: 246379
• ClinVar RCV Id: RCV000235434 ; RCV001071546 ; RCV001828122
• dbSNP Id: rs139220402
• ExAC: 8:134270628 T / C
• gnomAD v2: 8-134270628-T-C
• gnomAD v3: 8-133258385-T-C
• gnomAD v4: 8-133258385-T-C
• MyVariant Identifiers: chr8:g.134270628T>C (hg19) ; chr8:g.133258385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133258385T>C , CM000670.2:g.133258385T>C	GRCh38
NC_000008.10:g.134270628T>C , CM000670.1:g.134270628T>C	GRCh37
NC_000008.9:g.134339810T>C	NCBI36
NG_007943.1:g.43871A>G , LRG_258:g.43871A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323851.13:c.431A>G MANE Select	ENSP00000319977.8:p.Tyr144Cys
ENST00000519580.6:c.431A>G	ENSP00000429272.1:p.Tyr144Cys
ENST00000537882.3:c.431A>G	ENSP00000437443.2:p.Tyr144Cys
ENST00000676222.1:c.42A>G
ENST00000676444.1:n.462A>G
ENST00000323851.11:c.431A>G	ENSP00000319977.7:p.Tyr144Cys
ENST00000414097.6:c.431A>G	ENSP00000404854.2:p.Tyr144Cys
ENST00000517331.5:n.149A>G
ENST00000517599.5:c.*37A>G	ENSP00000429172.1:n.*37A>G
ENST00000518010.5:n.526+783A>G
ENST00000518066.5:c.37-16329A>G	ENSP00000431057.1:n.37-16329A>G
ENST00000518176.5:c.49-11722A>G	ENSP00000429007.1:n.49-11722A>G
ENST00000518480.5:c.233A>G	ENSP00000428802.1:p.Tyr78Cys
ENST00000519228.5:c.431A>G	ENSP00000429994.1:p.Tyr144Cys
ENST00000519580.5:c.431A>G	ENSP00000429272.1:p.Tyr144Cys
ENST00000520230.5:c.482A>G	ENSP00000428345.1:p.Tyr161Cys
ENST00000520943.5:c.464A>G	ENSP00000429840.1:p.Tyr155Cys
ENST00000522377.5:c.431A>G	ENSP00000429380.1:p.Tyr144Cys
ENST00000522476.5:c.233A>G	ENSP00000427894.1:p.Tyr78Cys
ENST00000522890.5:c.431A>G	ENSP00000428384.1:p.Tyr144Cys
ENST00000537882.2:c.188A>G	ENSP00000437443.1:p.Tyr63Cys
NM_001135242.1:c.431A>G	NP_001128714.1:p.Tyr144Cys
NM_001258432.1:c.233A>G	NP_001245361.1:p.Tyr78Cys
NM_001258433.1:c.188A>G	NP_001245362.1:p.Tyr63Cys
NM_006096.3:c.431A>G , LRG_258t1:c.431A>G	NP_006087.2:p.Tyr144Cys
XM_011516791.1:c.431A>G	XP_011515093.1:p.Tyr144Cys
NM_001135242.2:c.431A>G	NP_001128714.1:p.Tyr144Cys
NM_001258432.2:c.233A>G	NP_001245361.1:p.Tyr78Cys
NM_001258433.2:c.188A>G	NP_001245362.1:p.Tyr63Cys
NM_001374844.1:c.431A>G	NP_001361773.1:p.Tyr144Cys
NM_001374845.1:c.431A>G	NP_001361774.1:p.Tyr144Cys
NM_001374846.1:c.431A>G	NP_001361775.1:p.Tyr144Cys
NM_001374847.1:c.233A>G	NP_001361776.1:p.Tyr78Cys
NM_006096.4:c.431A>G MANE Select	NP_006087.2:p.Tyr144Cys