Canonical Allele Identifier: CA360385193

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 850473
• ClinVar RCV Id: RCV001054646 ; RCV004031723
• dbSNP Id: rs1166958114
• gnomAD v2: 5-89913658-A-G
• gnomAD v3: 5-90617841-A-G
• gnomAD v4: 5-90617841-A-G
• MyVariant Identifiers: chr5:g.89913658A>G (hg19) ; chr5:g.90617841A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617841A>G , CM000667.2:g.90617841A>G	GRCh38
NC_000005.9:g.89913658A>G , CM000667.1:g.89913658A>G	GRCh37
NC_000005.8:g.89949414A>G	NCBI36
NG_007083.1:g.64042A>G
NG_007083.2:g.93498A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.245A>G MANE Select	ENSP00000384582.2:p.Tyr82Cys
ENST00000638316.1:n.455A>G
ENST00000638638.1:n.652A>G
ENST00000640109.1:n.341A>G
ENST00000640281.1:n.304A>G
ENST00000405460.6:c.245A>G	ENSP00000384582.2:p.Tyr82Cys
ENST00000508842.5:c.257A>G	ENSP00000425936.1:p.Tyr86Cys
NM_032119.3:c.245A>G	NP_115495.3:p.Tyr82Cys
NR_003149.1:n.341A>G
XM_011543675.1:c.245A>G	XP_011541977.1:p.Tyr82Cys
XM_011543676.1:c.245A>G	XP_011541978.1:p.Tyr82Cys
XM_011543678.1:c.245A>G	XP_011541980.1:p.Tyr82Cys
XM_011543679.1:c.245A>G	XP_011541981.1:p.Tyr82Cys
NM_032119.4:c.245A>G MANE Select	NP_115495.3:p.Tyr82Cys
XM_017009963.2:c.245A>G	XP_016865452.1:p.Tyr82Cys
XM_017009964.2:c.245A>G	XP_016865453.1:p.Tyr82Cys
XM_017009965.1:c.242A>G	XP_016865454.1:p.Tyr81Cys
XM_017009966.2:c.245A>G	XP_016865455.1:p.Tyr82Cys
XM_017009967.1:c.245A>G	XP_016865456.1:p.Tyr82Cys
XM_017009968.2:c.245A>G	XP_016865457.1:p.Tyr82Cys
XM_017009969.2:c.245A>G	XP_016865458.1:p.Tyr82Cys
XM_017009970.2:c.245A>G	XP_016865459.1:p.Tyr82Cys
XM_017009971.2:c.245A>G	XP_016865460.1:p.Tyr82Cys
XM_017009974.2:c.245A>G	XP_016865463.1:p.Tyr82Cys
NR_003149.2:n.344A>G