Canonical Allele Identifier: CA3341539
Community Standard Title: NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90783899C>T , CM000667.2:g.90783899C>T GRCh38
NC_000005.9:g.90079716C>T , CM000667.1:g.90079716C>T GRCh37
NC_000005.8:g.90115472C>T NCBI36
NG_007083.1:g.230100C>T
NG_007083.2:g.259556C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13495C>T MANE Select NP_115495.3:p.Arg4499Cys
ENST00000405460.9:c.13495C>T MANE Select ENSP00000384582.2:p.Arg4499Cys
NM_032119.3:c.13495C>T NP_115495.3:p.Arg4499Cys
NR_003149.1:n.13508C>T
NR_003149.2:n.13511C>T
ENST00000405460.6:c.13495C>T ENSP00000384582.2:p.Arg4499Cys
ENST00000425867.2:c.478C>T ENSP00000392618.2:p.Arg160Cys
ENST00000425867.3:c.2449C>T ENSP00000392618.3:p.Arg817Cys
ENST00000638510.1:n.762C>T
ENST00000638975.1:c.124C>T ENSP00000492630.1:p.Arg42Cys
ENST00000639431.1:c.265+107690C>T ENSP00000491057.1:n.265+107690C>T
XM_011543675.1:c.13492C>T XP_011541977.1:p.Arg4498Cys
XM_011543676.1:c.13414C>T XP_011541978.1:p.Arg4472Cys
XM_011543677.1:c.10798C>T XP_011541979.1:p.Arg3600Cys
XM_011543678.1:c.13495C>T XP_011541980.1:p.Arg4499Cys
XM_017009963.2:c.13516C>T XP_016865452.1:p.Arg4506Cys
XM_017009964.2:c.13513C>T XP_016865453.1:p.Arg4505Cys
XM_017009965.1:c.13513C>T XP_016865454.1:p.Arg4505Cys
XM_017009966.2:c.13435C>T XP_016865455.1:p.Arg4479Cys
XM_017009967.1:c.13420C>T XP_016865456.1:p.Arg4474Cys
XM_017009968.2:c.13516C>T XP_016865457.1:p.Arg4506Cys
XM_017009969.2:c.13516C>T XP_016865458.1:p.Arg4506Cys
XM_017009970.2:c.13516C>T XP_016865459.1:p.Arg4506Cys
XM_017009971.2:c.13516C>T XP_016865460.1:p.Arg4506Cys
XM_017009972.1:c.6634C>T XP_016865461.1:p.Arg2212Cys
XM_017009973.1:c.6613C>T XP_016865462.1:p.Arg2205Cys