Canonical Allele Identifier: CA3341566
Community Standard Title: NM_032119.4(ADGRV1):c.13625G>A (p.Arg4542Gln)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90784029G>A , CM000667.2:g.90784029G>A GRCh38
NC_000005.9:g.90079846G>A , CM000667.1:g.90079846G>A GRCh37
NC_000005.8:g.90115602G>A NCBI36
NG_007083.1:g.230230G>A
NG_007083.2:g.259686G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13625G>A MANE Select NP_115495.3:p.Arg4542Gln
ENST00000405460.9:c.13625G>A MANE Select ENSP00000384582.2:p.Arg4542Gln
NM_032119.3:c.13625G>A NP_115495.3:p.Arg4542Gln
NR_003149.1:n.13638G>A
NR_003149.2:n.13641G>A
ENST00000405460.6:c.13625G>A ENSP00000384582.2:p.Arg4542Gln
ENST00000425867.2:c.608G>A ENSP00000392618.2:p.Arg203Gln
ENST00000425867.3:c.2579G>A ENSP00000392618.3:p.Arg860Gln
ENST00000638510.1:n.892G>A
ENST00000638975.1:c.254G>A ENSP00000492630.1:p.Arg85Gln
ENST00000639431.1:c.265+107820G>A ENSP00000491057.1:n.265+107820G>A
ENST00000640407.1:c.35G>A ENSP00000491425.1:p.Arg12Gln
XM_011543675.1:c.13622G>A XP_011541977.1:p.Arg4541Gln
XM_011543676.1:c.13544G>A XP_011541978.1:p.Arg4515Gln
XM_011543677.1:c.10928G>A XP_011541979.1:p.Arg3643Gln
XM_011543678.1:c.13625G>A XP_011541980.1:p.Arg4542Gln
XM_017009963.2:c.13646G>A XP_016865452.1:p.Arg4549Gln
XM_017009964.2:c.13643G>A XP_016865453.1:p.Arg4548Gln
XM_017009965.1:c.13643G>A XP_016865454.1:p.Arg4548Gln
XM_017009966.2:c.13565G>A XP_016865455.1:p.Arg4522Gln
XM_017009967.1:c.13550G>A XP_016865456.1:p.Arg4517Gln
XM_017009968.2:c.13646G>A XP_016865457.1:p.Arg4549Gln
XM_017009969.2:c.13646G>A XP_016865458.1:p.Arg4549Gln
XM_017009970.2:c.13646G>A XP_016865459.1:p.Arg4549Gln
XM_017009971.2:c.13646G>A XP_016865460.1:p.Arg4549Gln
XM_017009972.1:c.6764G>A XP_016865461.1:p.Arg2255Gln
XM_017009973.1:c.6743G>A XP_016865462.1:p.Arg2248Gln