Canonical Allele Identifier: CA360366555

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1437712
• ClinVar RCV Id: RCV001965017
• dbSNP Id: rs2149376532
• gnomAD v4: 5-90627416-T-G
• MyVariant Identifiers: chr5:g.89923233T>G (hg19) ; chr5:g.90627416T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627416T>G , CM000667.2:g.90627416T>G	GRCh38
NC_000005.9:g.89923233T>G , CM000667.1:g.89923233T>G	GRCh37
NC_000005.8:g.89958989T>G	NCBI36
NG_007083.1:g.73617T>G
NG_007083.2:g.103073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.878T>G MANE Select	ENSP00000384582.2:p.Leu293Arg
ENST00000640083.1:n.583T>G
ENST00000640109.1:n.974T>G
ENST00000640281.1:n.937T>G
ENST00000405460.6:c.878T>G	ENSP00000384582.2:p.Leu293Arg
NM_032119.3:c.878T>G	NP_115495.3:p.Leu293Arg
NR_003149.1:n.974T>G
XM_011543675.1:c.878T>G	XP_011541977.1:p.Leu293Arg
XM_011543676.1:c.878T>G	XP_011541978.1:p.Leu293Arg
XM_011543678.1:c.878T>G	XP_011541980.1:p.Leu293Arg
XM_011543679.1:c.878T>G	XP_011541981.1:p.Leu293Arg
NM_032119.4:c.878T>G MANE Select	NP_115495.3:p.Leu293Arg
XM_017009963.2:c.878T>G	XP_016865452.1:p.Leu293Arg
XM_017009964.2:c.878T>G	XP_016865453.1:p.Leu293Arg
XM_017009965.1:c.875T>G	XP_016865454.1:p.Leu292Arg
XM_017009966.2:c.878T>G	XP_016865455.1:p.Leu293Arg
XM_017009967.1:c.782T>G	XP_016865456.1:p.Leu261Arg
XM_017009968.2:c.878T>G	XP_016865457.1:p.Leu293Arg
XM_017009969.2:c.878T>G	XP_016865458.1:p.Leu293Arg
XM_017009970.2:c.878T>G	XP_016865459.1:p.Leu293Arg
XM_017009971.2:c.878T>G	XP_016865460.1:p.Leu293Arg
XM_017009974.2:c.878T>G	XP_016865463.1:p.Leu293Arg
NR_003149.2:n.977T>G