Canonical Allele Identifier: CA3340841

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2862061
• ClinVar RCV Id: RCV003704621
• dbSNP Id: rs575269452
• ExAC: 5:90041495 A / C
• gnomAD v2: 5-90041495-A-C
• MyVariant Identifiers: chr5:g.90041495A>C (hg19) ; chr5:g.90745678A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745678A>C , CM000667.2:g.90745678A>C	GRCh38
NC_000005.9:g.90041495A>C , CM000667.1:g.90041495A>C	GRCh37
NC_000005.8:g.90077251A>C	NCBI36
NG_007083.1:g.191879A>C
NG_007083.2:g.221335A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10857A>C MANE Select	ENSP00000384582.2:p.Glu3619Asp
ENST00000639431.1:c.265+69469A>C	ENSP00000491057.1:n.265+69469A>C
ENST00000640374.1:n.4001A>C
ENST00000640464.1:n.1276A>C
ENST00000405460.6:c.10857A>C	ENSP00000384582.2:p.Glu3619Asp
ENST00000509621.1:c.3554A>C
NM_032119.3:c.10857A>C	NP_115495.3:p.Glu3619Asp
NR_003149.1:n.10870A>C
XM_011543675.1:c.10854A>C	XP_011541977.1:p.Glu3618Asp
XM_011543676.1:c.10776A>C	XP_011541978.1:p.Glu3592Asp
XM_011543677.1:c.8160A>C	XP_011541979.1:p.Glu2720Asp
XM_011543678.1:c.10857A>C	XP_011541980.1:p.Glu3619Asp
XM_011543679.1:c.*79A>C	XP_011541981.1:n.*79A>C
NM_032119.4:c.10857A>C MANE Select	NP_115495.3:p.Glu3619Asp
XM_017009963.2:c.10878A>C	XP_016865452.1:p.Glu3626Asp
XM_017009964.2:c.10875A>C	XP_016865453.1:p.Glu3625Asp
XM_017009965.1:c.10875A>C	XP_016865454.1:p.Glu3625Asp
XM_017009966.2:c.10797A>C	XP_016865455.1:p.Glu3599Asp
XM_017009967.1:c.10782A>C	XP_016865456.1:p.Glu3594Asp
XM_017009968.2:c.10878A>C	XP_016865457.1:p.Glu3626Asp
XM_017009969.2:c.10878A>C	XP_016865458.1:p.Glu3626Asp
XM_017009970.2:c.10878A>C	XP_016865459.1:p.Glu3626Asp
XM_017009971.2:c.10878A>C	XP_016865460.1:p.Glu3626Asp
XM_017009972.1:c.3996A>C	XP_016865461.1:p.Glu1332Asp
XM_017009973.1:c.3975A>C	XP_016865462.1:p.Glu1325Asp
XM_017009974.2:c.*79A>C	XP_016865463.1:n.*79A>C
NR_003149.2:n.10873A>C