Canonical Allele Identifier: CA122803513
Gene: ADGRV1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90776485C>G , CM000667.2:g.90776485C>G GRCh38
NC_000005.9:g.90072302C>G , CM000667.1:g.90072302C>G GRCh37
NC_000005.8:g.90108058C>G NCBI36
NG_007083.1:g.222686C>G
NG_007083.2:g.252142C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.12436C>G MANE Select ENSP00000384582.2:p.Arg4146Gly
ENST00000425867.3:c.1390C>G ENSP00000392618.3:p.Arg464Gly
ENST00000639431.1:c.265+100276C>G ENSP00000491057.1:n.265+100276C>G
ENST00000640464.1:n.2855C>G
ENST00000640729.1:n.1013C>G
ENST00000405460.6:c.12436C>G ENSP00000384582.2:p.Arg4146Gly
NM_032119.3:c.12436C>G NP_115495.3:p.Arg4146Gly
NR_003149.1:n.12449C>G
XM_011543675.1:c.12433C>G XP_011541977.1:p.Arg4145Gly
XM_011543676.1:c.12355C>G XP_011541978.1:p.Arg4119Gly
XM_011543677.1:c.9739C>G XP_011541979.1:p.Arg3247Gly
XM_011543678.1:c.12436C>G XP_011541980.1:p.Arg4146Gly
NM_032119.4:c.12436C>G MANE Select NP_115495.3:p.Arg4146Gly
XM_017009963.2:c.12457C>G XP_016865452.1:p.Arg4153Gly
XM_017009964.2:c.12454C>G XP_016865453.1:p.Arg4152Gly
XM_017009965.1:c.12454C>G XP_016865454.1:p.Arg4152Gly
XM_017009966.2:c.12376C>G XP_016865455.1:p.Arg4126Gly
XM_017009967.1:c.12361C>G XP_016865456.1:p.Arg4121Gly
XM_017009968.2:c.12457C>G XP_016865457.1:p.Arg4153Gly
XM_017009969.2:c.12457C>G XP_016865458.1:p.Arg4153Gly
XM_017009970.2:c.12457C>G XP_016865459.1:p.Arg4153Gly
XM_017009971.2:c.12457C>G XP_016865460.1:p.Arg4153Gly
XM_017009972.1:c.5575C>G XP_016865461.1:p.Arg1859Gly
XM_017009973.1:c.5554C>G XP_016865462.1:p.Arg1852Gly
NR_003149.2:n.12452C>G