Canonical Allele Identifier: CA3341375
Community Standard Title: NM_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90778911G>A , CM000667.2:g.90778911G>A GRCh38
NC_000005.9:g.90074728G>A , CM000667.1:g.90074728G>A GRCh37
NC_000005.8:g.90110484G>A NCBI36
NG_007083.1:g.225112G>A
NG_007083.2:g.254568G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12896G>A MANE Select NP_115495.3:p.Arg4299Gln
ENST00000405460.9:c.12896G>A MANE Select ENSP00000384582.2:p.Arg4299Gln
NM_032119.3:c.12896G>A NP_115495.3:p.Arg4299Gln
NR_003149.1:n.12909G>A
NR_003149.2:n.12912G>A
ENST00000405460.6:c.12896G>A ENSP00000384582.2:p.Arg4299Gln
ENST00000425867.3:c.1850G>A ENSP00000392618.3:p.Arg617Gln
ENST00000639431.1:c.265+102702G>A ENSP00000491057.1:n.265+102702G>A
ENST00000640464.1:n.3315G>A
XM_011543675.1:c.12893G>A XP_011541977.1:p.Arg4298Gln
XM_011543676.1:c.12815G>A XP_011541978.1:p.Arg4272Gln
XM_011543677.1:c.10199G>A XP_011541979.1:p.Arg3400Gln
XM_011543678.1:c.12896G>A XP_011541980.1:p.Arg4299Gln
XM_017009963.2:c.12917G>A XP_016865452.1:p.Arg4306Gln
XM_017009964.2:c.12914G>A XP_016865453.1:p.Arg4305Gln
XM_017009965.1:c.12914G>A XP_016865454.1:p.Arg4305Gln
XM_017009966.2:c.12836G>A XP_016865455.1:p.Arg4279Gln
XM_017009967.1:c.12821G>A XP_016865456.1:p.Arg4274Gln
XM_017009968.2:c.12917G>A XP_016865457.1:p.Arg4306Gln
XM_017009969.2:c.12917G>A XP_016865458.1:p.Arg4306Gln
XM_017009970.2:c.12917G>A XP_016865459.1:p.Arg4306Gln
XM_017009971.2:c.12917G>A XP_016865460.1:p.Arg4306Gln
XM_017009972.1:c.6035G>A XP_016865461.1:p.Arg2012Gln
XM_017009973.1:c.6014G>A XP_016865462.1:p.Arg2005Gln