Canonical Allele Identifier: CA3339022

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 804498
• ClinVar RCV Id: RCV000991486 ; RCV003392720
• dbSNP Id: rs149600158
• ExAC: 5:89940588 C / G
• gnomAD v2: 5-89940588-C-G
• gnomAD v4: 5-90644771-C-G
• MyVariant Identifiers: chr5:g.89940588C>G (hg19) ; chr5:g.90644771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90644771C>G , CM000667.2:g.90644771C>G	GRCh38
NC_000005.9:g.89940588C>G , CM000667.1:g.89940588C>G	GRCh37
NC_000005.8:g.89976344C>G	NCBI36
NG_007083.1:g.90972C>G
NG_007083.2:g.120428C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.2800C>G MANE Select	ENSP00000384582.2:p.Pro934Ala
ENST00000504142.2:n.1566C>G
ENST00000639676.1:n.398C>G
ENST00000640403.1:c.103C>G	ENSP00000492531.1:p.Pro35Ala
ENST00000405460.6:c.2800C>G	ENSP00000384582.2:p.Pro934Ala
ENST00000504142.1:c.1565C>G
NM_032119.3:c.2800C>G	NP_115495.3:p.Pro934Ala
NR_003149.1:n.2896C>G
XM_011543675.1:c.2800C>G	XP_011541977.1:p.Pro934Ala
XM_011543676.1:c.2800C>G	XP_011541978.1:p.Pro934Ala
XM_011543677.1:c.103C>G	XP_011541979.1:p.Pro35Ala
XM_011543678.1:c.2800C>G	XP_011541980.1:p.Pro934Ala
XM_011543679.1:c.2800C>G	XP_011541981.1:p.Pro934Ala
NM_032119.4:c.2800C>G MANE Select	NP_115495.3:p.Pro934Ala
XM_017009963.2:c.2800C>G	XP_016865452.1:p.Pro934Ala
XM_017009964.2:c.2800C>G	XP_016865453.1:p.Pro934Ala
XM_017009965.1:c.2797C>G	XP_016865454.1:p.Pro933Ala
XM_017009966.2:c.2800C>G	XP_016865455.1:p.Pro934Ala
XM_017009967.1:c.2704C>G	XP_016865456.1:p.Pro902Ala
XM_017009968.2:c.2800C>G	XP_016865457.1:p.Pro934Ala
XM_017009969.2:c.2800C>G	XP_016865458.1:p.Pro934Ala
XM_017009970.2:c.2800C>G	XP_016865459.1:p.Pro934Ala
XM_017009971.2:c.2800C>G	XP_016865460.1:p.Pro934Ala
XM_017009974.2:c.2800C>G	XP_016865463.1:p.Pro934Ala
NR_003149.2:n.2899C>G