Canonical Allele Identifier: CA3341297

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90778009G>A , CM000667.2:g.90778009G>A	GRCh38
NC_000005.9:g.90073826G>A , CM000667.1:g.90073826G>A	GRCh37
NC_000005.8:g.90109582G>A	NCBI36
NG_007083.1:g.224210G>A
NG_007083.2:g.253666G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12632G>A MANE Select	NP_115495.3:p.Arg4211Gln
ENST00000405460.9:c.12632G>A MANE Select	ENSP00000384582.2:p.Arg4211Gln
NM_032119.3:c.12632G>A	NP_115495.3:p.Arg4211Gln
NR_003149.1:n.12645G>A
NR_003149.2:n.12648G>A
ENST00000405460.6:c.12632G>A	ENSP00000384582.2:p.Arg4211Gln
ENST00000425867.3:c.1586G>A	ENSP00000392618.3:p.Arg529Gln
ENST00000639431.1:c.265+101800G>A	ENSP00000491057.1:n.265+101800G>A
ENST00000640464.1:n.3051G>A
ENST00000640729.1:n.1209G>A
XM_011543675.1:c.12629G>A	XP_011541977.1:p.Arg4210Gln
XM_011543676.1:c.12551G>A	XP_011541978.1:p.Arg4184Gln
XM_011543677.1:c.9935G>A	XP_011541979.1:p.Arg3312Gln
XM_011543678.1:c.12632G>A	XP_011541980.1:p.Arg4211Gln
XM_017009963.2:c.12653G>A	XP_016865452.1:p.Arg4218Gln
XM_017009964.2:c.12650G>A	XP_016865453.1:p.Arg4217Gln
XM_017009965.1:c.12650G>A	XP_016865454.1:p.Arg4217Gln
XM_017009966.2:c.12572G>A	XP_016865455.1:p.Arg4191Gln
XM_017009967.1:c.12557G>A	XP_016865456.1:p.Arg4186Gln
XM_017009968.2:c.12653G>A	XP_016865457.1:p.Arg4218Gln
XM_017009969.2:c.12653G>A	XP_016865458.1:p.Arg4218Gln
XM_017009970.2:c.12653G>A	XP_016865459.1:p.Arg4218Gln
XM_017009971.2:c.12653G>A	XP_016865460.1:p.Arg4218Gln
XM_017009972.1:c.5771G>A	XP_016865461.1:p.Arg1924Gln
XM_017009973.1:c.5750G>A	XP_016865462.1:p.Arg1917Gln