Canonical Allele Identifier: CA445406343

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1643471
• ClinVar RCV Id: RCV002145875
• dbSNP Id: rs2150014829
• MyVariant Identifiers: chr5:g.90059136A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763319A>G , CM000667.2:g.90763319A>G	GRCh38
NC_000005.9:g.90059136A>G , CM000667.1:g.90059136A>G	GRCh37
NC_000005.8:g.90094892A>G	NCBI36
NG_007083.1:g.209520A>G
NG_007083.2:g.238976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12135A>G MANE Select	ENSP00000384582.2:p.Glu4045=
ENST00000425867.3:c.1089A>G	ENSP00000392618.3:p.Glu363=
ENST00000639431.1:c.265+87110A>G	ENSP00000491057.1:n.265+87110A>G
ENST00000640464.1:n.2554A>G
ENST00000640729.1:n.712A>G
ENST00000405460.6:c.12135A>G	ENSP00000384582.2:p.Glu4045=
NM_032119.3:c.12135A>G	NP_115495.3:p.Glu4045=
NR_003149.1:n.12148A>G
XM_011543675.1:c.12132A>G	XP_011541977.1:p.Glu4044=
XM_011543676.1:c.12054A>G	XP_011541978.1:p.Glu4018=
XM_011543677.1:c.9438A>G	XP_011541979.1:p.Glu3146=
XM_011543678.1:c.12135A>G	XP_011541980.1:p.Glu4045=
NM_032119.4:c.12135A>G MANE Select	NP_115495.3:p.Glu4045=
XM_017009963.2:c.12156A>G	XP_016865452.1:p.Glu4052=
XM_017009964.2:c.12153A>G	XP_016865453.1:p.Glu4051=
XM_017009965.1:c.12153A>G	XP_016865454.1:p.Glu4051=
XM_017009966.2:c.12075A>G	XP_016865455.1:p.Glu4025=
XM_017009967.1:c.12060A>G	XP_016865456.1:p.Glu4020=
XM_017009968.2:c.12156A>G	XP_016865457.1:p.Glu4052=
XM_017009969.2:c.12156A>G	XP_016865458.1:p.Glu4052=
XM_017009970.2:c.12156A>G	XP_016865459.1:p.Glu4052=
XM_017009971.2:c.12156A>G	XP_016865460.1:p.Glu4052=
XM_017009972.1:c.5274A>G	XP_016865461.1:p.Glu1758=
XM_017009973.1:c.5253A>G	XP_016865462.1:p.Glu1751=
NR_003149.2:n.12151A>G