Canonical Allele Identifier: CA360398358
Community Standard Title: NM_032119.4(ADGRV1):c.3679C>T (p.Gln1227Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90653253C>T , CM000667.2:g.90653253C>T GRCh38
NC_000005.9:g.89949070C>T , CM000667.1:g.89949070C>T GRCh37
NC_000005.8:g.89984826C>T NCBI36
NG_007083.1:g.99454C>T
NG_007083.2:g.128910C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.3679C>T MANE Select NP_115495.3:p.Gln1227Ter
ENST00000405460.9:c.3679C>T MANE Select ENSP00000384582.2:p.Gln1227Ter
NM_032119.3:c.3679C>T NP_115495.3:p.Gln1227Ter
NR_003149.1:n.3775C>T
NR_003149.2:n.3778C>T
ENST00000405460.6:c.3679C>T ENSP00000384582.2:p.Gln1227Ter
ENST00000504142.1:c.2444C>T
ENST00000504142.2:n.2445C>T
ENST00000639676.1:n.1277C>T
ENST00000640403.1:c.970C>T ENSP00000492531.1:p.Gln324Ter
XM_011543675.1:c.3679C>T XP_011541977.1:p.Gln1227Ter
XM_011543676.1:c.3679C>T XP_011541978.1:p.Gln1227Ter
XM_011543677.1:c.982C>T XP_011541979.1:p.Gln328Ter
XM_011543678.1:c.3679C>T XP_011541980.1:p.Gln1227Ter
XM_011543679.1:c.3679C>T XP_011541981.1:p.Gln1227Ter
XM_017009963.2:c.3679C>T XP_016865452.1:p.Gln1227Ter
XM_017009964.2:c.3679C>T XP_016865453.1:p.Gln1227Ter
XM_017009965.1:c.3676C>T XP_016865454.1:p.Gln1226Ter
XM_017009966.2:c.3679C>T XP_016865455.1:p.Gln1227Ter
XM_017009967.1:c.3583C>T XP_016865456.1:p.Gln1195Ter
XM_017009968.2:c.3679C>T XP_016865457.1:p.Gln1227Ter
XM_017009969.2:c.3679C>T XP_016865458.1:p.Gln1227Ter
XM_017009970.2:c.3679C>T XP_016865459.1:p.Gln1227Ter
XM_017009971.2:c.3679C>T XP_016865460.1:p.Gln1227Ter
XM_017009974.2:c.3679C>T XP_016865463.1:p.Gln1227Ter