Canonical Allele Identifier: CA360408826
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1754533044
gnomAD v3: 5-90745606-A-G
gnomAD v4: 5-90745606-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90745606A>G , CM000667.2:g.90745606A>G GRCh38
NC_000005.9:g.90041423A>G , CM000667.1:g.90041423A>G GRCh37
NC_000005.8:g.90077179A>G NCBI36
NG_007083.1:g.191807A>G
NG_007083.2:g.221263A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.10785A>G MANE Select ENSP00000384582.2:p.Ile3595Met
ENST00000639431.1:c.265+69397A>G ENSP00000491057.1:n.265+69397A>G
ENST00000640374.1:n.3929A>G
ENST00000640464.1:n.1204A>G
ENST00000405460.6:c.10785A>G ENSP00000384582.2:p.Ile3595Met
ENST00000509621.1:c.3482A>G
NM_032119.3:c.10785A>G NP_115495.3:p.Ile3595Met
NR_003149.1:n.10798A>G
XM_011543675.1:c.10782A>G XP_011541977.1:p.Ile3594Met
XM_011543676.1:c.10704A>G XP_011541978.1:p.Ile3568Met
XM_011543677.1:c.8088A>G XP_011541979.1:p.Ile2696Met
XM_011543678.1:c.10785A>G XP_011541980.1:p.Ile3595Met
XM_011543679.1:c.*7A>G XP_011541981.1:n.*7A>G
NM_032119.4:c.10785A>G MANE Select NP_115495.3:p.Ile3595Met
XM_017009963.2:c.10806A>G XP_016865452.1:p.Ile3602Met
XM_017009964.2:c.10803A>G XP_016865453.1:p.Ile3601Met
XM_017009965.1:c.10803A>G XP_016865454.1:p.Ile3601Met
XM_017009966.2:c.10725A>G XP_016865455.1:p.Ile3575Met
XM_017009967.1:c.10710A>G XP_016865456.1:p.Ile3570Met
XM_017009968.2:c.10806A>G XP_016865457.1:p.Ile3602Met
XM_017009969.2:c.10806A>G XP_016865458.1:p.Ile3602Met
XM_017009970.2:c.10806A>G XP_016865459.1:p.Ile3602Met
XM_017009971.2:c.10806A>G XP_016865460.1:p.Ile3602Met
XM_017009972.1:c.3924A>G XP_016865461.1:p.Ile1308Met
XM_017009973.1:c.3903A>G XP_016865462.1:p.Ile1301Met
XM_017009974.2:c.*7A>G XP_016865463.1:n.*7A>G
NR_003149.2:n.10801A>G