Canonical Allele Identifier: CA360390726
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1221235046
gnomAD v2: 5-89940589-C-G
gnomAD v4: 5-90644772-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90644772C>G , CM000667.2:g.90644772C>G GRCh38
NC_000005.9:g.89940589C>G , CM000667.1:g.89940589C>G GRCh37
NC_000005.8:g.89976345C>G NCBI36
NG_007083.1:g.90973C>G
NG_007083.2:g.120429C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.2801C>G MANE Select ENSP00000384582.2:p.Pro934Arg
ENST00000504142.2:n.1567C>G
ENST00000639676.1:n.399C>G
ENST00000640403.1:c.104C>G ENSP00000492531.1:p.Pro35Arg
ENST00000405460.6:c.2801C>G ENSP00000384582.2:p.Pro934Arg
ENST00000504142.1:c.1566C>G
NM_032119.3:c.2801C>G NP_115495.3:p.Pro934Arg
NR_003149.1:n.2897C>G
XM_011543675.1:c.2801C>G XP_011541977.1:p.Pro934Arg
XM_011543676.1:c.2801C>G XP_011541978.1:p.Pro934Arg
XM_011543677.1:c.104C>G XP_011541979.1:p.Pro35Arg
XM_011543678.1:c.2801C>G XP_011541980.1:p.Pro934Arg
XM_011543679.1:c.2801C>G XP_011541981.1:p.Pro934Arg
NM_032119.4:c.2801C>G MANE Select NP_115495.3:p.Pro934Arg
XM_017009963.2:c.2801C>G XP_016865452.1:p.Pro934Arg
XM_017009964.2:c.2801C>G XP_016865453.1:p.Pro934Arg
XM_017009965.1:c.2798C>G XP_016865454.1:p.Pro933Arg
XM_017009966.2:c.2801C>G XP_016865455.1:p.Pro934Arg
XM_017009967.1:c.2705C>G XP_016865456.1:p.Pro902Arg
XM_017009968.2:c.2801C>G XP_016865457.1:p.Pro934Arg
XM_017009969.2:c.2801C>G XP_016865458.1:p.Pro934Arg
XM_017009970.2:c.2801C>G XP_016865459.1:p.Pro934Arg
XM_017009971.2:c.2801C>G XP_016865460.1:p.Pro934Arg
XM_017009974.2:c.2801C>G XP_016865463.1:p.Pro934Arg
NR_003149.2:n.2900C>G