Canonical Allele Identifier: CA360366742

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1390530
• ClinVar RCV Id: RCV001910766
• dbSNP Id: rs2149973670
• MyVariant Identifiers: chr5:g.90050895C>G (hg19) ; chr5:g.90755078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755078C>G , CM000667.2:g.90755078C>G	GRCh38
NC_000005.9:g.90050895C>G , CM000667.1:g.90050895C>G	GRCh37
NC_000005.8:g.90086651C>G	NCBI36
NG_007083.1:g.201279C>G
NG_007083.2:g.230735C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11473C>G MANE Select	ENSP00000384582.2:p.His3825Asp
ENST00000425867.3:c.604C>G	ENSP00000392618.3:p.His202Asp
ENST00000639431.1:c.265+78869C>G	ENSP00000491057.1:n.265+78869C>G
ENST00000640374.1:n.4617C>G
ENST00000640464.1:n.1892C>G
ENST00000405460.6:c.11473C>G	ENSP00000384582.2:p.His3825Asp
ENST00000509621.1:c.4170C>G
NM_032119.3:c.11473C>G	NP_115495.3:p.His3825Asp
NR_003149.1:n.11486C>G
XM_011543675.1:c.11470C>G	XP_011541977.1:p.His3824Asp
XM_011543676.1:c.11392C>G	XP_011541978.1:p.His3798Asp
XM_011543677.1:c.8776C>G	XP_011541979.1:p.His2926Asp
XM_011543678.1:c.11473C>G	XP_011541980.1:p.His3825Asp
NM_032119.4:c.11473C>G MANE Select	NP_115495.3:p.His3825Asp
XM_017009963.2:c.11494C>G	XP_016865452.1:p.His3832Asp
XM_017009964.2:c.11491C>G	XP_016865453.1:p.His3831Asp
XM_017009965.1:c.11491C>G	XP_016865454.1:p.His3831Asp
XM_017009966.2:c.11413C>G	XP_016865455.1:p.His3805Asp
XM_017009967.1:c.11398C>G	XP_016865456.1:p.His3800Asp
XM_017009968.2:c.11494C>G	XP_016865457.1:p.His3832Asp
XM_017009969.2:c.11494C>G	XP_016865458.1:p.His3832Asp
XM_017009970.2:c.11494C>G	XP_016865459.1:p.His3832Asp
XM_017009971.2:c.11494C>G	XP_016865460.1:p.His3832Asp
XM_017009972.1:c.4612C>G	XP_016865461.1:p.His1538Asp
XM_017009973.1:c.4591C>G	XP_016865462.1:p.His1531Asp
NR_003149.2:n.11489C>G