Canonical Allele Identifier: CA122802254

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2781141
• ClinVar RCV Id: RCV003659815
• dbSNP Id: rs1006301871
• gnomAD v4: 5-90703687-G-C
• MyVariant Identifiers: chr5:g.89999504G>C (hg19) ; chr5:g.90703687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703687G>C , CM000667.2:g.90703687G>C	GRCh38
NC_000005.9:g.89999504G>C , CM000667.1:g.89999504G>C	GRCh37
NC_000005.8:g.90035260G>C	NCBI36
NG_007083.1:g.149888G>C
NG_007083.2:g.179344G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.8178G>C MANE Select	ENSP00000384582.2:p.Val2726=
ENST00000639431.1:c.265+27478G>C	ENSP00000491057.1:n.265+27478G>C
ENST00000639473.1:n.3637G>C
ENST00000640012.1:c.1985G>C
ENST00000640374.1:n.1322G>C
ENST00000640403.1:c.5469G>C	ENSP00000492531.1:p.Val1823=
ENST00000640779.1:c.2907G>C
ENST00000405460.6:c.8178G>C	ENSP00000384582.2:p.Val2726=
ENST00000509621.1:c.875G>C
NM_032119.3:c.8178G>C	NP_115495.3:p.Val2726=
NR_003149.1:n.8191G>C
XM_011543675.1:c.8175G>C	XP_011541977.1:p.Val2725=
XM_011543676.1:c.8097G>C	XP_011541978.1:p.Val2699=
XM_011543677.1:c.5481G>C	XP_011541979.1:p.Val1827=
XM_011543678.1:c.8178G>C	XP_011541980.1:p.Val2726=
XM_011543679.1:c.8178G>C	XP_011541981.1:p.Val2726=
NM_032119.4:c.8178G>C MANE Select	NP_115495.3:p.Val2726=
XM_017009963.2:c.8178G>C	XP_016865452.1:p.Val2726=
XM_017009964.2:c.8175G>C	XP_016865453.1:p.Val2725=
XM_017009965.1:c.8175G>C	XP_016865454.1:p.Val2725=
XM_017009966.2:c.8097G>C	XP_016865455.1:p.Val2699=
XM_017009967.1:c.8082G>C	XP_016865456.1:p.Val2694=
XM_017009968.2:c.8178G>C	XP_016865457.1:p.Val2726=
XM_017009969.2:c.8178G>C	XP_016865458.1:p.Val2726=
XM_017009970.2:c.8178G>C	XP_016865459.1:p.Val2726=
XM_017009971.2:c.8178G>C	XP_016865460.1:p.Val2726=
XM_017009972.1:c.1296G>C	XP_016865461.1:p.Val432=
XM_017009973.1:c.1296G>C	XP_016865462.1:p.Val432=
XM_017009974.2:c.8178G>C	XP_016865463.1:p.Val2726=
NR_003149.2:n.8194G>C