Canonical Allele Identifier: CA3341317
Community Standard Title: NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90778442A>G , CM000667.2:g.90778442A>G GRCh38
NC_000005.9:g.90074259A>G , CM000667.1:g.90074259A>G GRCh37
NC_000005.8:g.90110015A>G NCBI36
NG_007083.1:g.224643A>G
NG_007083.2:g.254099A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12682A>G MANE Select NP_115495.3:p.Ile4228Val
ENST00000405460.9:c.12682A>G MANE Select ENSP00000384582.2:p.Ile4228Val
NM_032119.3:c.12682A>G NP_115495.3:p.Ile4228Val
NR_003149.1:n.12695A>G
NR_003149.2:n.12698A>G
ENST00000405460.6:c.12682A>G ENSP00000384582.2:p.Ile4228Val
ENST00000425867.3:c.1636A>G ENSP00000392618.3:p.Ile546Val
ENST00000639431.1:c.265+102233A>G ENSP00000491057.1:n.265+102233A>G
ENST00000640464.1:n.3101A>G
ENST00000640729.1:n.1259A>G
XM_011543675.1:c.12679A>G XP_011541977.1:p.Ile4227Val
XM_011543676.1:c.12601A>G XP_011541978.1:p.Ile4201Val
XM_011543677.1:c.9985A>G XP_011541979.1:p.Ile3329Val
XM_011543678.1:c.12682A>G XP_011541980.1:p.Ile4228Val
XM_017009963.2:c.12703A>G XP_016865452.1:p.Ile4235Val
XM_017009964.2:c.12700A>G XP_016865453.1:p.Ile4234Val
XM_017009965.1:c.12700A>G XP_016865454.1:p.Ile4234Val
XM_017009966.2:c.12622A>G XP_016865455.1:p.Ile4208Val
XM_017009967.1:c.12607A>G XP_016865456.1:p.Ile4203Val
XM_017009968.2:c.12703A>G XP_016865457.1:p.Ile4235Val
XM_017009969.2:c.12703A>G XP_016865458.1:p.Ile4235Val
XM_017009970.2:c.12703A>G XP_016865459.1:p.Ile4235Val
XM_017009971.2:c.12703A>G XP_016865460.1:p.Ile4235Val
XM_017009972.1:c.5821A>G XP_016865461.1:p.Ile1941Val
XM_017009973.1:c.5800A>G XP_016865462.1:p.Ile1934Val