Canonical Allele Identifier: CA360388774
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90703690-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90703690A>G , CM000667.2:g.90703690A>G GRCh38
NC_000005.9:g.89999507A>G , CM000667.1:g.89999507A>G GRCh37
NC_000005.8:g.90035263A>G NCBI36
NG_007083.1:g.149891A>G
NG_007083.2:g.179347A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.8181A>G MANE Select ENSP00000384582.2:p.Ile2727Met
ENST00000639431.1:c.265+27481A>G ENSP00000491057.1:n.265+27481A>G
ENST00000639473.1:n.3640A>G
ENST00000640012.1:c.1988A>G
ENST00000640374.1:n.1325A>G
ENST00000640403.1:c.5472A>G ENSP00000492531.1:p.Ile1824Met
ENST00000640779.1:c.2910A>G
ENST00000405460.6:c.8181A>G ENSP00000384582.2:p.Ile2727Met
ENST00000509621.1:c.878A>G
NM_032119.3:c.8181A>G NP_115495.3:p.Ile2727Met
NR_003149.1:n.8194A>G
XM_011543675.1:c.8178A>G XP_011541977.1:p.Ile2726Met
XM_011543676.1:c.8100A>G XP_011541978.1:p.Ile2700Met
XM_011543677.1:c.5484A>G XP_011541979.1:p.Ile1828Met
XM_011543678.1:c.8181A>G XP_011541980.1:p.Ile2727Met
XM_011543679.1:c.8181A>G XP_011541981.1:p.Ile2727Met
NM_032119.4:c.8181A>G MANE Select NP_115495.3:p.Ile2727Met
XM_017009963.2:c.8181A>G XP_016865452.1:p.Ile2727Met
XM_017009964.2:c.8178A>G XP_016865453.1:p.Ile2726Met
XM_017009965.1:c.8178A>G XP_016865454.1:p.Ile2726Met
XM_017009966.2:c.8100A>G XP_016865455.1:p.Ile2700Met
XM_017009967.1:c.8085A>G XP_016865456.1:p.Ile2695Met
XM_017009968.2:c.8181A>G XP_016865457.1:p.Ile2727Met
XM_017009969.2:c.8181A>G XP_016865458.1:p.Ile2727Met
XM_017009970.2:c.8181A>G XP_016865459.1:p.Ile2727Met
XM_017009971.2:c.8181A>G XP_016865460.1:p.Ile2727Met
XM_017009972.1:c.1299A>G XP_016865461.1:p.Ile433Met
XM_017009973.1:c.1299A>G XP_016865462.1:p.Ile433Met
XM_017009974.2:c.8181A>G XP_016865463.1:p.Ile2727Met
NR_003149.2:n.8197A>G