Canonical Allele Identifier: CA360393636

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 438171
• ClinVar RCV Id: RCV000504781 ; RCV003558425
• dbSNP Id: rs1554090072
• gnomAD v4: 5-90708892-C-G
• MyVariant Identifiers: chr5:g.90004709C>G (hg19) ; chr5:g.90708892C>G (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90708892C>G , CM000667.2:g.90708892C>G	GRCh38
NC_000005.9:g.90004709C>G , CM000667.1:g.90004709C>G	GRCh37
NC_000005.8:g.90040465C>G	NCBI36
NG_007083.1:g.155093C>G
NG_007083.2:g.184549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.8807C>G MANE Select	ENSP00000384582.2:p.Ser2936Ter
ENST00000639431.1:c.265+32683C>G	ENSP00000491057.1:n.265+32683C>G
ENST00000639473.1:n.4266C>G
ENST00000640012.1:c.2614C>G
ENST00000640374.1:n.1951C>G
ENST00000640403.1:c.6098C>G	ENSP00000492531.1:p.Ser2033Ter
ENST00000640779.1:c.3536C>G
ENST00000405460.6:c.8807C>G	ENSP00000384582.2:p.Ser2936Ter
ENST00000509621.1:c.1504C>G
NM_032119.3:c.8807C>G	NP_115495.3:p.Ser2936Ter
NR_003149.1:n.8820C>G
XM_011543675.1:c.8804C>G	XP_011541977.1:p.Ser2935Ter
XM_011543676.1:c.8726C>G	XP_011541978.1:p.Ser2909Ter
XM_011543677.1:c.6110C>G	XP_011541979.1:p.Ser2037Ter
XM_011543678.1:c.8807C>G	XP_011541980.1:p.Ser2936Ter
XM_011543679.1:c.8807C>G	XP_011541981.1:p.Ser2936Ter
NM_032119.4:c.8807C>G MANE Select	NP_115495.3:p.Ser2936Ter
XM_017009963.2:c.8828C>G	XP_016865452.1:p.Ser2943Ter
XM_017009964.2:c.8825C>G	XP_016865453.1:p.Ser2942Ter
XM_017009965.1:c.8825C>G	XP_016865454.1:p.Ser2942Ter
XM_017009966.2:c.8747C>G	XP_016865455.1:p.Ser2916Ter
XM_017009967.1:c.8732C>G	XP_016865456.1:p.Ser2911Ter
XM_017009968.2:c.8828C>G	XP_016865457.1:p.Ser2943Ter
XM_017009969.2:c.8828C>G	XP_016865458.1:p.Ser2943Ter
XM_017009970.2:c.8828C>G	XP_016865459.1:p.Ser2943Ter
XM_017009971.2:c.8828C>G	XP_016865460.1:p.Ser2943Ter
XM_017009972.1:c.1946C>G	XP_016865461.1:p.Ser649Ter
XM_017009973.1:c.1925C>G	XP_016865462.1:p.Ser642Ter
XM_017009974.2:c.8828C>G	XP_016865463.1:p.Ser2943Ter
NR_003149.2:n.8823C>G