Canonical Allele Identifier: CA360377162
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90763321-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90763321C>A , CM000667.2:g.90763321C>A GRCh38
NC_000005.9:g.90059138C>A , CM000667.1:g.90059138C>A GRCh37
NC_000005.8:g.90094894C>A NCBI36
NG_007083.1:g.209522C>A
NG_007083.2:g.238978C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.12137C>A MANE Select ENSP00000384582.2:p.Ser4046Tyr
ENST00000425867.3:c.1091C>A ENSP00000392618.3:p.Ser364Tyr
ENST00000639431.1:c.265+87112C>A ENSP00000491057.1:n.265+87112C>A
ENST00000640464.1:n.2556C>A
ENST00000640729.1:n.714C>A
ENST00000405460.6:c.12137C>A ENSP00000384582.2:p.Ser4046Tyr
NM_032119.3:c.12137C>A NP_115495.3:p.Ser4046Tyr
NR_003149.1:n.12150C>A
XM_011543675.1:c.12134C>A XP_011541977.1:p.Ser4045Tyr
XM_011543676.1:c.12056C>A XP_011541978.1:p.Ser4019Tyr
XM_011543677.1:c.9440C>A XP_011541979.1:p.Ser3147Tyr
XM_011543678.1:c.12137C>A XP_011541980.1:p.Ser4046Tyr
NM_032119.4:c.12137C>A MANE Select NP_115495.3:p.Ser4046Tyr
XM_017009963.2:c.12158C>A XP_016865452.1:p.Ser4053Tyr
XM_017009964.2:c.12155C>A XP_016865453.1:p.Ser4052Tyr
XM_017009965.1:c.12155C>A XP_016865454.1:p.Ser4052Tyr
XM_017009966.2:c.12077C>A XP_016865455.1:p.Ser4026Tyr
XM_017009967.1:c.12062C>A XP_016865456.1:p.Ser4021Tyr
XM_017009968.2:c.12158C>A XP_016865457.1:p.Ser4053Tyr
XM_017009969.2:c.12158C>A XP_016865458.1:p.Ser4053Tyr
XM_017009970.2:c.12158C>A XP_016865459.1:p.Ser4053Tyr
XM_017009971.2:c.12158C>A XP_016865460.1:p.Ser4053Tyr
XM_017009972.1:c.5276C>A XP_016865461.1:p.Ser1759Tyr
XM_017009973.1:c.5255C>A XP_016865462.1:p.Ser1752Tyr
NR_003149.2:n.12153C>A