Canonical Allele Identifier: CA247815
Community Standard Title: NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90628697T>A , CM000667.2:g.90628697T>A GRCh38
NC_000005.9:g.89924514T>A , CM000667.1:g.89924514T>A GRCh37
NC_000005.8:g.89960270T>A NCBI36
NG_007083.1:g.74898T>A
NG_007083.2:g.104354T>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.1374T>A MANE Select NP_115495.3:p.Phe458Leu
ENST00000405460.9:c.1374T>A MANE Select ENSP00000384582.2:p.Phe458Leu
NM_032119.3:c.1374T>A NP_115495.3:p.Phe458Leu
NR_003149.1:n.1470T>A
NR_003149.2:n.1473T>A
ENST00000405460.6:c.1374T>A ENSP00000384582.2:p.Phe458Leu
ENST00000504142.1:c.139T>A
ENST00000504142.2:n.140T>A
ENST00000640083.1:n.1079T>A
ENST00000640109.1:n.1470T>A
XM_011543675.1:c.1374T>A XP_011541977.1:p.Phe458Leu
XM_011543676.1:c.1374T>A XP_011541978.1:p.Phe458Leu
XM_011543678.1:c.1374T>A XP_011541980.1:p.Phe458Leu
XM_011543679.1:c.1374T>A XP_011541981.1:p.Phe458Leu
XM_017009963.2:c.1374T>A XP_016865452.1:p.Phe458Leu
XM_017009964.2:c.1374T>A XP_016865453.1:p.Phe458Leu
XM_017009965.1:c.1371T>A XP_016865454.1:p.Phe457Leu
XM_017009966.2:c.1374T>A XP_016865455.1:p.Phe458Leu
XM_017009967.1:c.1278T>A XP_016865456.1:p.Phe426Leu
XM_017009968.2:c.1374T>A XP_016865457.1:p.Phe458Leu
XM_017009969.2:c.1374T>A XP_016865458.1:p.Phe458Leu
XM_017009970.2:c.1374T>A XP_016865459.1:p.Phe458Leu
XM_017009971.2:c.1374T>A XP_016865460.1:p.Phe458Leu
XM_017009974.2:c.1374T>A XP_016865463.1:p.Phe458Leu