Canonical Allele Identifier: CA394650211

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848116G>C (hg19) ; chr16:g.4798115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798115G>C , CM000678.2:g.4798115G>C	GRCh38
NC_000016.9:g.4848116G>C , CM000678.1:g.4848116G>C	GRCh37
NC_000016.8:g.4788117G>C	NCBI36
NG_032174.1:g.9836C>G , LRG_455:g.9836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.601C>G MANE Select	ENSP00000322832.6:p.Leu201Val
ENST00000322048.11:c.601C>G	ENSP00000322832.5:p.Leu201Val
ENST00000586153.1:c.247C>G	ENSP00000464699.1:p.Leu83Val
ENST00000586336.5:n.700C>G
ENST00000586504.5:c.381C>G
ENST00000587377.5:c.614C>G	ENSP00000468343.1:p.Pro205Arg
ENST00000587711.5:c.286C>G	ENSP00000467459.1:p.Leu96Val
ENST00000587843.5:c.*339C>G	ENSP00000465970.1:n.*339C>G
ENST00000588201.5:c.*592C>G	ENSP00000466529.1:n.*592C>G
ENST00000589543.5:n.558C>G
ENST00000591292.5:n.1930C>G
ENST00000591392.5:c.529C>G	ENSP00000467509.1:p.Leu177Val
ENST00000592019.1:c.77-300C>G
NM_024589.2:c.601C>G , LRG_455t1:c.601C>G	NP_078865.1:p.Leu201Val
NR_046480.1:n.925C>G
XM_006720947.2:c.601C>G	XP_006721010.1:p.Leu201Val
XM_006720948.2:c.331C>G	XP_006721011.1:p.Leu111Val
XM_006720947.4:c.601C>G	XP_006721010.1:p.Leu201Val
XM_006720948.4:c.331C>G	XP_006721011.1:p.Leu111Val
NM_024589.3:c.601C>G MANE Select	NP_078865.1:p.Leu201Val
NR_046480.2:n.608C>G