Canonical Allele Identifier: CA3340495
Community Standard Title: NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90716721C>T , CM000667.2:g.90716721C>T GRCh38
NC_000005.9:g.90012538C>T , CM000667.1:g.90012538C>T GRCh37
NC_000005.8:g.90048294C>T NCBI36
NG_007083.1:g.162922C>T
NG_007083.2:g.192378C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9439C>T MANE Select NP_115495.3:p.Arg3147Ter
ENST00000405460.9:c.9439C>T MANE Select ENSP00000384582.2:p.Arg3147Ter
NM_032119.3:c.9439C>T NP_115495.3:p.Arg3147Ter
NR_003149.1:n.9452C>T
NR_003149.2:n.9455C>T
ENST00000405460.6:c.9439C>T ENSP00000384582.2:p.Arg3147Ter
ENST00000509621.1:c.2136C>T
ENST00000639431.1:c.265+40512C>T ENSP00000491057.1:n.265+40512C>T
ENST00000639473.1:n.4898C>T
ENST00000640374.1:n.2583C>T
ENST00000640779.1:c.4168C>T
XM_011543675.1:c.9436C>T XP_011541977.1:p.Arg3146Ter
XM_011543676.1:c.9358C>T XP_011541978.1:p.Arg3120Ter
XM_011543677.1:c.6742C>T XP_011541979.1:p.Arg2248Ter
XM_011543678.1:c.9439C>T XP_011541980.1:p.Arg3147Ter
XM_011543679.1:c.9439C>T XP_011541981.1:p.Arg3147Ter
XM_017009963.2:c.9460C>T XP_016865452.1:p.Arg3154Ter
XM_017009964.2:c.9457C>T XP_016865453.1:p.Arg3153Ter
XM_017009965.1:c.9457C>T XP_016865454.1:p.Arg3153Ter
XM_017009966.2:c.9379C>T XP_016865455.1:p.Arg3127Ter
XM_017009967.1:c.9364C>T XP_016865456.1:p.Arg3122Ter
XM_017009968.2:c.9460C>T XP_016865457.1:p.Arg3154Ter
XM_017009969.2:c.9460C>T XP_016865458.1:p.Arg3154Ter
XM_017009970.2:c.9460C>T XP_016865459.1:p.Arg3154Ter
XM_017009971.2:c.9460C>T XP_016865460.1:p.Arg3154Ter
XM_017009972.1:c.2578C>T XP_016865461.1:p.Arg860Ter
XM_017009973.1:c.2557C>T XP_016865462.1:p.Arg853Ter
XM_017009974.2:c.9460C>T XP_016865463.1:p.Arg3154Ter
XR_001742802.1:n.2523-912G>A
XR_948560.1:n.272-912G>A