Canonical Allele Identifier: CA3341534
Community Standard Title: NM_032119.4(ADGRV1):c.13460T>A (p.Leu4487Gln)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90783864T>A , CM000667.2:g.90783864T>A GRCh38
NC_000005.9:g.90079681T>A , CM000667.1:g.90079681T>A GRCh37
NC_000005.8:g.90115437T>A NCBI36
NG_007083.1:g.230065T>A
NG_007083.2:g.259521T>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13460T>A MANE Select NP_115495.3:p.Leu4487Gln
ENST00000405460.9:c.13460T>A MANE Select ENSP00000384582.2:p.Leu4487Gln
NM_032119.3:c.13460T>A NP_115495.3:p.Leu4487Gln
NR_003149.1:n.13473T>A
NR_003149.2:n.13476T>A
ENST00000405460.6:c.13460T>A ENSP00000384582.2:p.Leu4487Gln
ENST00000425867.2:c.443T>A ENSP00000392618.2:p.Leu148Gln
ENST00000425867.3:c.2414T>A ENSP00000392618.3:p.Leu805Gln
ENST00000638510.1:n.727T>A
ENST00000638975.1:c.89T>A ENSP00000492630.1:p.Leu30Gln
ENST00000639431.1:c.265+107655T>A ENSP00000491057.1:n.265+107655T>A
XM_011543675.1:c.13457T>A XP_011541977.1:p.Leu4486Gln
XM_011543676.1:c.13379T>A XP_011541978.1:p.Leu4460Gln
XM_011543677.1:c.10763T>A XP_011541979.1:p.Leu3588Gln
XM_011543678.1:c.13460T>A XP_011541980.1:p.Leu4487Gln
XM_017009963.2:c.13481T>A XP_016865452.1:p.Leu4494Gln
XM_017009964.2:c.13478T>A XP_016865453.1:p.Leu4493Gln
XM_017009965.1:c.13478T>A XP_016865454.1:p.Leu4493Gln
XM_017009966.2:c.13400T>A XP_016865455.1:p.Leu4467Gln
XM_017009967.1:c.13385T>A XP_016865456.1:p.Leu4462Gln
XM_017009968.2:c.13481T>A XP_016865457.1:p.Leu4494Gln
XM_017009969.2:c.13481T>A XP_016865458.1:p.Leu4494Gln
XM_017009970.2:c.13481T>A XP_016865459.1:p.Leu4494Gln
XM_017009971.2:c.13481T>A XP_016865460.1:p.Leu4494Gln
XM_017009972.1:c.6599T>A XP_016865461.1:p.Leu2200Gln
XM_017009973.1:c.6578T>A XP_016865462.1:p.Leu2193Gln