Canonical Allele Identifier: CA3340257
Gene: ADGRV1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90705414G>A , CM000667.2:g.90705414G>A GRCh38
NC_000005.9:g.90001231G>A , CM000667.1:g.90001231G>A GRCh37
NC_000005.8:g.90036987G>A NCBI36
NG_007083.1:g.151615G>A
NG_007083.2:g.181071G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.8401G>A MANE Select ENSP00000384582.2:p.Gly2801Arg
ENST00000639431.1:c.265+29205G>A ENSP00000491057.1:n.265+29205G>A
ENST00000639473.1:n.3860G>A
ENST00000640012.1:c.2208G>A
ENST00000640374.1:n.1545G>A
ENST00000640403.1:c.5692G>A ENSP00000492531.1:p.Gly1898Arg
ENST00000640779.1:c.3130G>A
ENST00000405460.6:c.8401G>A ENSP00000384582.2:p.Gly2801Arg
ENST00000509621.1:c.1098G>A
NM_032119.3:c.8401G>A NP_115495.3:p.Gly2801Arg
NR_003149.1:n.8414G>A
XM_011543675.1:c.8398G>A XP_011541977.1:p.Gly2800Arg
XM_011543676.1:c.8320G>A XP_011541978.1:p.Gly2774Arg
XM_011543677.1:c.5704G>A XP_011541979.1:p.Gly1902Arg
XM_011543678.1:c.8401G>A XP_011541980.1:p.Gly2801Arg
XM_011543679.1:c.8401G>A XP_011541981.1:p.Gly2801Arg
NM_032119.4:c.8401G>A MANE Select NP_115495.3:p.Gly2801Arg
XM_017009963.2:c.8422G>A XP_016865452.1:p.Gly2808Arg
XM_017009964.2:c.8419G>A XP_016865453.1:p.Gly2807Arg
XM_017009965.1:c.8419G>A XP_016865454.1:p.Gly2807Arg
XM_017009966.2:c.8341G>A XP_016865455.1:p.Gly2781Arg
XM_017009967.1:c.8326G>A XP_016865456.1:p.Gly2776Arg
XM_017009968.2:c.8422G>A XP_016865457.1:p.Gly2808Arg
XM_017009969.2:c.8422G>A XP_016865458.1:p.Gly2808Arg
XM_017009970.2:c.8422G>A XP_016865459.1:p.Gly2808Arg
XM_017009971.2:c.8422G>A XP_016865460.1:p.Gly2808Arg
XM_017009972.1:c.1540G>A XP_016865461.1:p.Gly514Arg
XM_017009973.1:c.1519G>A XP_016865462.1:p.Gly507Arg
XM_017009974.2:c.8422G>A XP_016865463.1:p.Gly2808Arg
NR_003149.2:n.8417G>A