Canonical Allele Identifier: CA183738

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90778481G>A , CM000667.2:g.90778481G>A	GRCh38
NC_000005.9:g.90074298G>A , CM000667.1:g.90074298G>A	GRCh37
NC_000005.8:g.90110054G>A	NCBI36
NG_007083.1:g.224682G>A
NG_007083.2:g.254138G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12721G>A MANE Select	NP_115495.3:p.Ala4241Thr
ENST00000405460.9:c.12721G>A MANE Select	ENSP00000384582.2:p.Ala4241Thr
NM_032119.3:c.12721G>A	NP_115495.3:p.Ala4241Thr
NR_003149.1:n.12734G>A
NR_003149.2:n.12737G>A
ENST00000405460.6:c.12721G>A	ENSP00000384582.2:p.Ala4241Thr
ENST00000425867.3:c.1675G>A	ENSP00000392618.3:p.Ala559Thr
ENST00000639431.1:c.265+102272G>A	ENSP00000491057.1:n.265+102272G>A
ENST00000640464.1:n.3140G>A
ENST00000640729.1:n.1298G>A
XM_011543675.1:c.12718G>A	XP_011541977.1:p.Ala4240Thr
XM_011543676.1:c.12640G>A	XP_011541978.1:p.Ala4214Thr
XM_011543677.1:c.10024G>A	XP_011541979.1:p.Ala3342Thr
XM_011543678.1:c.12721G>A	XP_011541980.1:p.Ala4241Thr
XM_017009963.2:c.12742G>A	XP_016865452.1:p.Ala4248Thr
XM_017009964.2:c.12739G>A	XP_016865453.1:p.Ala4247Thr
XM_017009965.1:c.12739G>A	XP_016865454.1:p.Ala4247Thr
XM_017009966.2:c.12661G>A	XP_016865455.1:p.Ala4221Thr
XM_017009967.1:c.12646G>A	XP_016865456.1:p.Ala4216Thr
XM_017009968.2:c.12742G>A	XP_016865457.1:p.Ala4248Thr
XM_017009969.2:c.12742G>A	XP_016865458.1:p.Ala4248Thr
XM_017009970.2:c.12742G>A	XP_016865459.1:p.Ala4248Thr
XM_017009971.2:c.12742G>A	XP_016865460.1:p.Ala4248Thr
XM_017009972.1:c.5860G>A	XP_016865461.1:p.Ala1954Thr
XM_017009973.1:c.5839G>A	XP_016865462.1:p.Ala1947Thr