Canonical Allele Identifier: CA7882551

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 851681
• ClinVar RCV Id: RCV001056123 ; RCV002553362
• dbSNP Id: rs137934107
• ExAC: 16:4847943 T / C
• gnomAD v2: 16-4847943-T-C
• gnomAD v3: 16-4797942-T-C
• gnomAD v4: 16-4797942-T-C
• MyVariant Identifiers: chr16:g.4847943T>C (hg19) ; chr16:g.4797942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797942T>C , CM000678.2:g.4797942T>C	GRCh38
NC_000016.9:g.4847943T>C , CM000678.1:g.4847943T>C	GRCh37
NC_000016.8:g.4787944T>C	NCBI36
NG_032174.1:g.10009A>G , LRG_455:g.10009A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.691A>G MANE Select	ENSP00000322832.6:p.Met231Val
ENST00000322048.11:c.691A>G	ENSP00000322832.5:p.Met231Val
ENST00000586153.1:c.337A>G	ENSP00000464699.1:p.Met113Val
ENST00000586336.5:n.790A>G
ENST00000586504.5:c.426-102A>G
ENST00000587377.5:c.*11A>G	ENSP00000468343.1:n.*11A>G
ENST00000587711.5:c.376A>G	ENSP00000467459.1:p.Met126Val
ENST00000587843.5:c.*429A>G	ENSP00000465970.1:n.*429A>G
ENST00000588201.5:c.*682A>G	ENSP00000466529.1:n.*682A>G
ENST00000589543.5:n.648A>G
ENST00000591292.5:n.2020A>G
ENST00000591392.5:c.619A>G	ENSP00000467509.1:p.Met207Val
ENST00000592019.1:c.77-127A>G
NM_024589.2:c.691A>G , LRG_455t1:c.691A>G	NP_078865.1:p.Met231Val
NR_046480.1:n.1015A>G
XM_006720947.2:c.691A>G	XP_006721010.1:p.Met231Val
XM_006720948.2:c.421A>G	XP_006721011.1:p.Met141Val
XM_006720947.4:c.691A>G	XP_006721010.1:p.Met231Val
XM_006720948.4:c.421A>G	XP_006721011.1:p.Met141Val
NM_024589.3:c.691A>G MANE Select	NP_078865.1:p.Met231Val
NR_046480.2:n.698A>G