Canonical Allele Identifier: CA360408956

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1058148
• ClinVar RCV Id: RCV001367245
• dbSNP Id: rs1346986419
• gnomAD v2: 5-90041454-G-C
• gnomAD v4: 5-90745637-G-C
• MyVariant Identifiers: chr5:g.90041454G>C (hg19) ; chr5:g.90745637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745637G>C , CM000667.2:g.90745637G>C	GRCh38
NC_000005.9:g.90041454G>C , CM000667.1:g.90041454G>C	GRCh37
NC_000005.8:g.90077210G>C	NCBI36
NG_007083.1:g.191838G>C
NG_007083.2:g.221294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10816G>C MANE Select	ENSP00000384582.2:p.Ala3606Pro
ENST00000639431.1:c.265+69428G>C	ENSP00000491057.1:n.265+69428G>C
ENST00000640374.1:n.3960G>C
ENST00000640464.1:n.1235G>C
ENST00000405460.6:c.10816G>C	ENSP00000384582.2:p.Ala3606Pro
ENST00000509621.1:c.3513G>C
NM_032119.3:c.10816G>C	NP_115495.3:p.Ala3606Pro
NR_003149.1:n.10829G>C
XM_011543675.1:c.10813G>C	XP_011541977.1:p.Ala3605Pro
XM_011543676.1:c.10735G>C	XP_011541978.1:p.Ala3579Pro
XM_011543677.1:c.8119G>C	XP_011541979.1:p.Ala2707Pro
XM_011543678.1:c.10816G>C	XP_011541980.1:p.Ala3606Pro
XM_011543679.1:c.*38G>C	XP_011541981.1:n.*38G>C
NM_032119.4:c.10816G>C MANE Select	NP_115495.3:p.Ala3606Pro
XM_017009963.2:c.10837G>C	XP_016865452.1:p.Ala3613Pro
XM_017009964.2:c.10834G>C	XP_016865453.1:p.Ala3612Pro
XM_017009965.1:c.10834G>C	XP_016865454.1:p.Ala3612Pro
XM_017009966.2:c.10756G>C	XP_016865455.1:p.Ala3586Pro
XM_017009967.1:c.10741G>C	XP_016865456.1:p.Ala3581Pro
XM_017009968.2:c.10837G>C	XP_016865457.1:p.Ala3613Pro
XM_017009969.2:c.10837G>C	XP_016865458.1:p.Ala3613Pro
XM_017009970.2:c.10837G>C	XP_016865459.1:p.Ala3613Pro
XM_017009971.2:c.10837G>C	XP_016865460.1:p.Ala3613Pro
XM_017009972.1:c.3955G>C	XP_016865461.1:p.Ala1319Pro
XM_017009973.1:c.3934G>C	XP_016865462.1:p.Ala1312Pro
XM_017009974.2:c.*38G>C	XP_016865463.1:n.*38G>C
NR_003149.2:n.10832G>C