Canonical Allele Identifier: CA3339268
Community Standard Title: NM_032119.4(ADGRV1):c.3955C>T (p.Arg1319Trp)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90653529C>T , CM000667.2:g.90653529C>T GRCh38
NC_000005.9:g.89949346C>T , CM000667.1:g.89949346C>T GRCh37
NC_000005.8:g.89985102C>T NCBI36
NG_007083.1:g.99730C>T
NG_007083.2:g.129186C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.3955C>T MANE Select NP_115495.3:p.Arg1319Trp
ENST00000405460.9:c.3955C>T MANE Select ENSP00000384582.2:p.Arg1319Trp
NM_032119.3:c.3955C>T NP_115495.3:p.Arg1319Trp
NR_003149.1:n.4051C>T
NR_003149.2:n.4054C>T
ENST00000405460.6:c.3955C>T ENSP00000384582.2:p.Arg1319Trp
ENST00000504142.1:c.2720C>T
ENST00000504142.2:n.2721C>T
ENST00000639676.1:n.1553C>T
ENST00000640403.1:c.1246C>T ENSP00000492531.1:p.Arg416Trp
XM_011543675.1:c.3955C>T XP_011541977.1:p.Arg1319Trp
XM_011543676.1:c.3955C>T XP_011541978.1:p.Arg1319Trp
XM_011543677.1:c.1258C>T XP_011541979.1:p.Arg420Trp
XM_011543678.1:c.3955C>T XP_011541980.1:p.Arg1319Trp
XM_011543679.1:c.3955C>T XP_011541981.1:p.Arg1319Trp
XM_017009963.2:c.3955C>T XP_016865452.1:p.Arg1319Trp
XM_017009964.2:c.3955C>T XP_016865453.1:p.Arg1319Trp
XM_017009965.1:c.3952C>T XP_016865454.1:p.Arg1318Trp
XM_017009966.2:c.3955C>T XP_016865455.1:p.Arg1319Trp
XM_017009967.1:c.3859C>T XP_016865456.1:p.Arg1287Trp
XM_017009968.2:c.3955C>T XP_016865457.1:p.Arg1319Trp
XM_017009969.2:c.3955C>T XP_016865458.1:p.Arg1319Trp
XM_017009970.2:c.3955C>T XP_016865459.1:p.Arg1319Trp
XM_017009971.2:c.3955C>T XP_016865460.1:p.Arg1319Trp
XM_017009974.2:c.3955C>T XP_016865463.1:p.Arg1319Trp