Canonical Allele Identifier: CA360404544
Community Standard Title: NM_032119.4(ADGRV1):c.14523C>A (p.Phe4841Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90802744C>A , CM000667.2:g.90802744C>A GRCh38
NC_000005.9:g.90098561C>A , CM000667.1:g.90098561C>A GRCh37
NC_000005.8:g.90134317C>A NCBI36
NG_007083.1:g.248945C>A
NG_007083.2:g.278401C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14523C>A MANE Select NP_115495.3:p.Phe4841Leu
ENST00000405460.9:c.14523C>A MANE Select ENSP00000384582.2:p.Phe4841Leu
NM_032119.3:c.14523C>A NP_115495.3:p.Phe4841Leu
NR_003149.1:n.14536C>A
NR_003149.2:n.14539C>A
ENST00000405460.6:c.14523C>A ENSP00000384582.2:p.Phe4841Leu
ENST00000425867.2:c.1506C>A ENSP00000392618.2:p.Phe502Leu
ENST00000425867.3:c.3477C>A ENSP00000392618.3:p.Phe1159Leu
ENST00000638510.1:n.1790C>A
ENST00000638585.1:n.289C>A
ENST00000639431.1:c.265+126535C>A ENSP00000491057.1:n.265+126535C>A
ENST00000640407.1:c.933C>A ENSP00000491425.1:p.Phe311Leu
XM_011543675.1:c.14520C>A XP_011541977.1:p.Phe4840Leu
XM_011543676.1:c.14442C>A XP_011541978.1:p.Phe4814Leu
XM_011543677.1:c.11826C>A XP_011541979.1:p.Phe3942Leu
XM_011543678.1:c.14523C>A XP_011541980.1:p.Phe4841Leu
XM_017009963.2:c.14544C>A XP_016865452.1:p.Phe4848Leu
XM_017009964.2:c.14541C>A XP_016865453.1:p.Phe4847Leu
XM_017009965.1:c.14541C>A XP_016865454.1:p.Phe4847Leu
XM_017009966.2:c.14463C>A XP_016865455.1:p.Phe4821Leu
XM_017009967.1:c.14448C>A XP_016865456.1:p.Phe4816Leu
XM_017009968.2:c.14544C>A XP_016865457.1:p.Phe4848Leu
XM_017009969.2:c.14544C>A XP_016865458.1:p.Phe4848Leu
XM_017009970.2:c.14544C>A XP_016865459.1:p.Phe4848Leu
XM_017009971.2:c.14544C>A XP_016865460.1:p.Phe4848Leu
XM_017009972.1:c.7662C>A XP_016865461.1:p.Phe2554Leu
XM_017009973.1:c.7641C>A XP_016865462.1:p.Phe2547Leu