Canonical Allele Identifier: CA3341464
Gene: ADGRV1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90781575G>A , CM000667.2:g.90781575G>A GRCh38
NC_000005.9:g.90077392G>A , CM000667.1:g.90077392G>A GRCh37
NC_000005.8:g.90113148G>A NCBI36
NG_007083.1:g.227776G>A
NG_007083.2:g.257232G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.13228G>A MANE Select ENSP00000384582.2:p.Glu4410Lys
ENST00000425867.3:c.2182G>A ENSP00000392618.3:p.Glu728Lys
ENST00000638510.1:n.495G>A
ENST00000639431.1:c.265+105366G>A ENSP00000491057.1:n.265+105366G>A
ENST00000405460.6:c.13228G>A ENSP00000384582.2:p.Glu4410Lys
ENST00000425867.2:c.211G>A ENSP00000392618.2:p.Glu71Lys
NM_032119.3:c.13228G>A NP_115495.3:p.Glu4410Lys
NR_003149.1:n.13241G>A
XM_011543675.1:c.13225G>A XP_011541977.1:p.Glu4409Lys
XM_011543676.1:c.13147G>A XP_011541978.1:p.Glu4383Lys
XM_011543677.1:c.10531G>A XP_011541979.1:p.Glu3511Lys
XM_011543678.1:c.13228G>A XP_011541980.1:p.Glu4410Lys
NM_032119.4:c.13228G>A MANE Select NP_115495.3:p.Glu4410Lys
XM_017009963.2:c.13249G>A XP_016865452.1:p.Glu4417Lys
XM_017009964.2:c.13246G>A XP_016865453.1:p.Glu4416Lys
XM_017009965.1:c.13246G>A XP_016865454.1:p.Glu4416Lys
XM_017009966.2:c.13168G>A XP_016865455.1:p.Glu4390Lys
XM_017009967.1:c.13153G>A XP_016865456.1:p.Glu4385Lys
XM_017009968.2:c.13249G>A XP_016865457.1:p.Glu4417Lys
XM_017009969.2:c.13249G>A XP_016865458.1:p.Glu4417Lys
XM_017009970.2:c.13249G>A XP_016865459.1:p.Glu4417Lys
XM_017009971.2:c.13249G>A XP_016865460.1:p.Glu4417Lys
XM_017009972.1:c.6367G>A XP_016865461.1:p.Glu2123Lys
XM_017009973.1:c.6346G>A XP_016865462.1:p.Glu2116Lys
NR_003149.2:n.13244G>A