Canonical Allele Identifier: CA360368579

Gene: ADGRV1

Linked Data

• dbSNP Id: rs121909762
• gnomAD v2: 5-89986808-C-G
• gnomAD v4: 5-90690991-C-G
• MyVariant Identifiers: chr5:g.89986808C>G (hg19) ; chr5:g.90690991C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90690991C>G , CM000667.2:g.90690991C>G	GRCh38
NC_000005.9:g.89986808C>G , CM000667.1:g.89986808C>G	GRCh37
NC_000005.8:g.90022564C>G	NCBI36
NG_007083.1:g.137192C>G
NG_007083.2:g.166648C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6901C>G MANE Select	ENSP00000384582.2:p.Gln2301Glu
ENST00000639431.1:c.265+14782C>G	ENSP00000491057.1:n.265+14782C>G
ENST00000639473.1:n.2360C>G
ENST00000640012.1:c.758+33C>G
ENST00000640374.1:n.45C>G
ENST00000640403.1:c.4192C>G	ENSP00000492531.1:p.Gln1398Glu
ENST00000640779.1:c.1680+33C>G
ENST00000405460.6:c.6901C>G	ENSP00000384582.2:p.Gln2301Glu
NM_032119.3:c.6901C>G	NP_115495.3:p.Gln2301Glu
NR_003149.1:n.6964+33C>G
XM_011543675.1:c.6898C>G	XP_011541977.1:p.Gln2300Glu
XM_011543676.1:c.6820C>G	XP_011541978.1:p.Gln2274Glu
XM_011543677.1:c.4204C>G	XP_011541979.1:p.Gln1402Glu
XM_011543678.1:c.6901C>G	XP_011541980.1:p.Gln2301Glu
XM_011543679.1:c.6901C>G	XP_011541981.1:p.Gln2301Glu
NM_032119.4:c.6901C>G MANE Select	NP_115495.3:p.Gln2301Glu
XM_017009963.2:c.6901C>G	XP_016865452.1:p.Gln2301Glu
XM_017009964.2:c.6898C>G	XP_016865453.1:p.Gln2300Glu
XM_017009965.1:c.6898C>G	XP_016865454.1:p.Gln2300Glu
XM_017009966.2:c.6820C>G	XP_016865455.1:p.Gln2274Glu
XM_017009967.1:c.6805C>G	XP_016865456.1:p.Gln2269Glu
XM_017009968.2:c.6901C>G	XP_016865457.1:p.Gln2301Glu
XM_017009969.2:c.6901C>G	XP_016865458.1:p.Gln2301Glu
XM_017009970.2:c.6901C>G	XP_016865459.1:p.Gln2301Glu
XM_017009971.2:c.6901C>G	XP_016865460.1:p.Gln2301Glu
XM_017009972.1:c.69+33C>G	XP_016865461.1:n.69+33C>G
XM_017009973.1:c.69+33C>G	XP_016865462.1:n.69+33C>G
XM_017009974.2:c.6901C>G	XP_016865463.1:p.Gln2301Glu
NR_003149.2:n.6967+33C>G