Canonical Allele Identifier: CA121834379
Community Standard Title: NM_032119.4(ADGRV1):c.2438G>A (p.Arg813Gln)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90642926G>A , CM000667.2:g.90642926G>A GRCh38
NC_000005.9:g.89938743G>A , CM000667.1:g.89938743G>A GRCh37
NC_000005.8:g.89974499G>A NCBI36
NG_007083.1:g.89127G>A
NG_007083.2:g.118583G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.2438G>A MANE Select NP_115495.3:p.Arg813Gln
ENST00000405460.9:c.2438G>A MANE Select ENSP00000384582.2:p.Arg813Gln
NM_032119.3:c.2438G>A NP_115495.3:p.Arg813Gln
NR_003149.1:n.2534G>A
NR_003149.2:n.2537G>A
ENST00000405460.6:c.2438G>A ENSP00000384582.2:p.Arg813Gln
ENST00000504142.1:c.1203G>A
ENST00000504142.2:n.1204G>A
ENST00000512205.1:n.348G>A
ENST00000639676.1:n.36G>A
ENST00000640403.1:c.-260G>A ENSP00000492531.1:n.-260G>A
XM_011543675.1:c.2438G>A XP_011541977.1:p.Arg813Gln
XM_011543676.1:c.2438G>A XP_011541978.1:p.Arg813Gln
XM_011543677.1:c.-260G>A XP_011541979.1:n.-260G>A
XM_011543678.1:c.2438G>A XP_011541980.1:p.Arg813Gln
XM_011543679.1:c.2438G>A XP_011541981.1:p.Arg813Gln
XM_017009963.2:c.2438G>A XP_016865452.1:p.Arg813Gln
XM_017009964.2:c.2438G>A XP_016865453.1:p.Arg813Gln
XM_017009965.1:c.2435G>A XP_016865454.1:p.Arg812Gln
XM_017009966.2:c.2438G>A XP_016865455.1:p.Arg813Gln
XM_017009967.1:c.2342G>A XP_016865456.1:p.Arg781Gln
XM_017009968.2:c.2438G>A XP_016865457.1:p.Arg813Gln
XM_017009969.2:c.2438G>A XP_016865458.1:p.Arg813Gln
XM_017009970.2:c.2438G>A XP_016865459.1:p.Arg813Gln
XM_017009971.2:c.2438G>A XP_016865460.1:p.Arg813Gln
XM_017009974.2:c.2438G>A XP_016865463.1:p.Arg813Gln