Canonical Allele Identifier: CA360367411
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90755174-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90755174T>G , CM000667.2:g.90755174T>G GRCh38
NC_000005.9:g.90050991T>G , CM000667.1:g.90050991T>G GRCh37
NC_000005.8:g.90086747T>G NCBI36
NG_007083.1:g.201375T>G
NG_007083.2:g.230831T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.11569T>G MANE Select ENSP00000384582.2:p.Ser3857Ala
ENST00000425867.3:c.700T>G ENSP00000392618.3:p.Ser234Ala
ENST00000639431.1:c.265+78965T>G ENSP00000491057.1:n.265+78965T>G
ENST00000640374.1:n.4713T>G
ENST00000640464.1:n.1988T>G
ENST00000405460.6:c.11569T>G ENSP00000384582.2:p.Ser3857Ala
ENST00000509621.1:c.4266T>G
NM_032119.3:c.11569T>G NP_115495.3:p.Ser3857Ala
NR_003149.1:n.11582T>G
XM_011543675.1:c.11566T>G XP_011541977.1:p.Ser3856Ala
XM_011543676.1:c.11488T>G XP_011541978.1:p.Ser3830Ala
XM_011543677.1:c.8872T>G XP_011541979.1:p.Ser2958Ala
XM_011543678.1:c.11569T>G XP_011541980.1:p.Ser3857Ala
NM_032119.4:c.11569T>G MANE Select NP_115495.3:p.Ser3857Ala
XM_017009963.2:c.11590T>G XP_016865452.1:p.Ser3864Ala
XM_017009964.2:c.11587T>G XP_016865453.1:p.Ser3863Ala
XM_017009965.1:c.11587T>G XP_016865454.1:p.Ser3863Ala
XM_017009966.2:c.11509T>G XP_016865455.1:p.Ser3837Ala
XM_017009967.1:c.11494T>G XP_016865456.1:p.Ser3832Ala
XM_017009968.2:c.11590T>G XP_016865457.1:p.Ser3864Ala
XM_017009969.2:c.11590T>G XP_016865458.1:p.Ser3864Ala
XM_017009970.2:c.11590T>G XP_016865459.1:p.Ser3864Ala
XM_017009971.2:c.11590T>G XP_016865460.1:p.Ser3864Ala
XM_017009972.1:c.4708T>G XP_016865461.1:p.Ser1570Ala
XM_017009973.1:c.4687T>G XP_016865462.1:p.Ser1563Ala
NR_003149.2:n.11585T>G