Canonical Allele Identifier: CA360362722
Community Standard Title: NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90685795G>A , CM000667.2:g.90685795G>A GRCh38
NC_000005.9:g.89981612G>A , CM000667.1:g.89981612G>A GRCh37
NC_000005.8:g.90017368G>A NCBI36
NG_007083.1:g.131996G>A
NG_007083.2:g.161452G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6290G>A MANE Select NP_115495.3:p.Arg2097His
ENST00000405460.9:c.6290G>A MANE Select ENSP00000384582.2:p.Arg2097His
NM_032119.3:c.6290G>A NP_115495.3:p.Arg2097His
NR_003149.1:n.6386G>A
NR_003149.2:n.6389G>A
ENST00000405460.6:c.6290G>A ENSP00000384582.2:p.Arg2097His
ENST00000639431.1:c.265+9586G>A ENSP00000491057.1:n.265+9586G>A
ENST00000639473.1:n.1749G>A
ENST00000640012.1:c.180G>A
ENST00000640403.1:c.3581G>A ENSP00000492531.1:p.Arg1194His
ENST00000640779.1:c.1102G>A
XM_011543675.1:c.6287G>A XP_011541977.1:p.Arg2096His
XM_011543676.1:c.6209G>A XP_011541978.1:p.Arg2070His
XM_011543677.1:c.3593G>A XP_011541979.1:p.Arg1198His
XM_011543678.1:c.6290G>A XP_011541980.1:p.Arg2097His
XM_011543679.1:c.6290G>A XP_011541981.1:p.Arg2097His
XM_017009963.2:c.6290G>A XP_016865452.1:p.Arg2097His
XM_017009964.2:c.6287G>A XP_016865453.1:p.Arg2096His
XM_017009965.1:c.6287G>A XP_016865454.1:p.Arg2096His
XM_017009966.2:c.6209G>A XP_016865455.1:p.Arg2070His
XM_017009967.1:c.6194G>A XP_016865456.1:p.Arg2065His
XM_017009968.2:c.6290G>A XP_016865457.1:p.Arg2097His
XM_017009969.2:c.6290G>A XP_016865458.1:p.Arg2097His
XM_017009970.2:c.6290G>A XP_016865459.1:p.Arg2097His
XM_017009971.2:c.6290G>A XP_016865460.1:p.Arg2097His
XM_017009973.1:c.-510G>A XP_016865462.1:n.-510G>A
XM_017009974.2:c.6290G>A XP_016865463.1:p.Arg2097His