Canonical Allele Identifier: CA360399414
Community Standard Title: NM_032119.4(ADGRV1):c.9478G>C (p.Glu3160Gln)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90720078G>C , CM000667.2:g.90720078G>C GRCh38
NC_000005.9:g.90015895G>C , CM000667.1:g.90015895G>C GRCh37
NC_000005.8:g.90051651G>C NCBI36
NG_007083.1:g.166279G>C
NG_007083.2:g.195735G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9478G>C MANE Select NP_115495.3:p.Glu3160Gln
ENST00000405460.9:c.9478G>C MANE Select ENSP00000384582.2:p.Glu3160Gln
NM_032119.3:c.9478G>C NP_115495.3:p.Glu3160Gln
NR_003149.1:n.9491G>C
NR_003149.2:n.9494G>C
ENST00000405460.6:c.9478G>C ENSP00000384582.2:p.Glu3160Gln
ENST00000509621.1:c.2175G>C
ENST00000639431.1:c.265+43869G>C ENSP00000491057.1:n.265+43869G>C
ENST00000640374.1:n.2622G>C
ENST00000640779.1:c.4207G>C
XM_011543675.1:c.9475G>C XP_011541977.1:p.Glu3159Gln
XM_011543676.1:c.9397G>C XP_011541978.1:p.Glu3133Gln
XM_011543677.1:c.6781G>C XP_011541979.1:p.Glu2261Gln
XM_011543678.1:c.9478G>C XP_011541980.1:p.Glu3160Gln
XM_011543679.1:c.9478G>C XP_011541981.1:p.Glu3160Gln
XM_017009963.2:c.9499G>C XP_016865452.1:p.Glu3167Gln
XM_017009964.2:c.9496G>C XP_016865453.1:p.Glu3166Gln
XM_017009965.1:c.9496G>C XP_016865454.1:p.Glu3166Gln
XM_017009966.2:c.9418G>C XP_016865455.1:p.Glu3140Gln
XM_017009967.1:c.9403G>C XP_016865456.1:p.Glu3135Gln
XM_017009968.2:c.9499G>C XP_016865457.1:p.Glu3167Gln
XM_017009969.2:c.9499G>C XP_016865458.1:p.Glu3167Gln
XM_017009970.2:c.9499G>C XP_016865459.1:p.Glu3167Gln
XM_017009971.2:c.9499G>C XP_016865460.1:p.Glu3167Gln
XM_017009972.1:c.2617G>C XP_016865461.1:p.Glu873Gln
XM_017009973.1:c.2596G>C XP_016865462.1:p.Glu866Gln
XM_017009974.2:c.9499G>C XP_016865463.1:p.Glu3167Gln
XR_001742802.1:n.2523-4269C>G
XR_948560.1:n.272-4269C>G