Canonical Allele Identifier: CA360385624

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1012515
• ClinVar RCV Id: RCV001310512
• dbSNP Id: rs1763569691
• gnomAD v4: 5-90617892-C-T
• MyVariant Identifiers: chr5:g.89913709C>T (hg19) ; chr5:g.90617892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617892C>T , CM000667.2:g.90617892C>T	GRCh38
NC_000005.9:g.89913709C>T , CM000667.1:g.89913709C>T	GRCh37
NC_000005.8:g.89949465C>T	NCBI36
NG_007083.1:g.64093C>T
NG_007083.2:g.93549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.296C>T MANE Select	ENSP00000384582.2:p.Ala99Val
ENST00000638316.1:n.506C>T
ENST00000638638.1:n.703C>T
ENST00000640083.1:n.1C>T
ENST00000640109.1:n.392C>T
ENST00000640281.1:n.355C>T
ENST00000405460.6:c.296C>T	ENSP00000384582.2:p.Ala99Val
ENST00000508842.5:c.308C>T	ENSP00000425936.1:p.Ala103Val
NM_032119.3:c.296C>T	NP_115495.3:p.Ala99Val
NR_003149.1:n.392C>T
XM_011543675.1:c.296C>T	XP_011541977.1:p.Ala99Val
XM_011543676.1:c.296C>T	XP_011541978.1:p.Ala99Val
XM_011543678.1:c.296C>T	XP_011541980.1:p.Ala99Val
XM_011543679.1:c.296C>T	XP_011541981.1:p.Ala99Val
NM_032119.4:c.296C>T MANE Select	NP_115495.3:p.Ala99Val
XM_017009963.2:c.296C>T	XP_016865452.1:p.Ala99Val
XM_017009964.2:c.296C>T	XP_016865453.1:p.Ala99Val
XM_017009965.1:c.293C>T	XP_016865454.1:p.Ala98Val
XM_017009966.2:c.296C>T	XP_016865455.1:p.Ala99Val
XM_017009967.1:c.296C>T	XP_016865456.1:p.Ala99Val
XM_017009968.2:c.296C>T	XP_016865457.1:p.Ala99Val
XM_017009969.2:c.296C>T	XP_016865458.1:p.Ala99Val
XM_017009970.2:c.296C>T	XP_016865459.1:p.Ala99Val
XM_017009971.2:c.296C>T	XP_016865460.1:p.Ala99Val
XM_017009974.2:c.296C>T	XP_016865463.1:p.Ala99Val
NR_003149.2:n.395C>T