Canonical Allele Identifier: CA360377018

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1921721
• ClinVar RCV Id: RCV002613246
• gnomAD v4: 5-90763308-A-G
• MyVariant Identifiers: chr5:g.90059125A>G (hg19) ; chr5:g.90763308A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763308A>G , CM000667.2:g.90763308A>G	GRCh38
NC_000005.9:g.90059125A>G , CM000667.1:g.90059125A>G	GRCh37
NC_000005.8:g.90094881A>G	NCBI36
NG_007083.1:g.209509A>G
NG_007083.2:g.238965A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12124A>G MANE Select	ENSP00000384582.2:p.Met4042Val
ENST00000425867.3:c.1078A>G	ENSP00000392618.3:p.Met360Val
ENST00000639431.1:c.265+87099A>G	ENSP00000491057.1:n.265+87099A>G
ENST00000640464.1:n.2543A>G
ENST00000640729.1:n.701A>G
ENST00000405460.6:c.12124A>G	ENSP00000384582.2:p.Met4042Val
NM_032119.3:c.12124A>G	NP_115495.3:p.Met4042Val
NR_003149.1:n.12137A>G
XM_011543675.1:c.12121A>G	XP_011541977.1:p.Met4041Val
XM_011543676.1:c.12043A>G	XP_011541978.1:p.Met4015Val
XM_011543677.1:c.9427A>G	XP_011541979.1:p.Met3143Val
XM_011543678.1:c.12124A>G	XP_011541980.1:p.Met4042Val
NM_032119.4:c.12124A>G MANE Select	NP_115495.3:p.Met4042Val
XM_017009963.2:c.12145A>G	XP_016865452.1:p.Met4049Val
XM_017009964.2:c.12142A>G	XP_016865453.1:p.Met4048Val
XM_017009965.1:c.12142A>G	XP_016865454.1:p.Met4048Val
XM_017009966.2:c.12064A>G	XP_016865455.1:p.Met4022Val
XM_017009967.1:c.12049A>G	XP_016865456.1:p.Met4017Val
XM_017009968.2:c.12145A>G	XP_016865457.1:p.Met4049Val
XM_017009969.2:c.12145A>G	XP_016865458.1:p.Met4049Val
XM_017009970.2:c.12145A>G	XP_016865459.1:p.Met4049Val
XM_017009971.2:c.12145A>G	XP_016865460.1:p.Met4049Val
XM_017009972.1:c.5263A>G	XP_016865461.1:p.Met1755Val
XM_017009973.1:c.5242A>G	XP_016865462.1:p.Met1748Val
NR_003149.2:n.12140A>G