Canonical Allele Identifier: CA3341916
Community Standard Title: NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810675G>C , CM000667.2:g.90810675G>C GRCh38
NC_000005.9:g.90106492G>C , CM000667.1:g.90106492G>C GRCh37
NC_000005.8:g.90142248G>C NCBI36
NG_007083.1:g.256876G>C
NG_007083.2:g.286332G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.15415G>C MANE Select NP_115495.3:p.Glu5139Gln
ENST00000405460.9:c.15415G>C MANE Select ENSP00000384582.2:p.Glu5139Gln
NM_032119.3:c.15415G>C NP_115495.3:p.Glu5139Gln
NR_003149.1:n.15428G>C
NR_003149.2:n.15431G>C
ENST00000405460.6:c.15415G>C ENSP00000384582.2:p.Glu5139Gln
ENST00000425867.2:c.2398G>C ENSP00000392618.2:p.Glu800Gln
ENST00000425867.3:c.4369G>C ENSP00000392618.3:p.Glu1457Gln
ENST00000638510.1:n.2682G>C
ENST00000639431.1:c.265+134466G>C ENSP00000491057.1:n.265+134466G>C
ENST00000640407.1:c.1825G>C ENSP00000491425.1:p.Glu609Gln
XM_011543675.1:c.15412G>C XP_011541977.1:p.Glu5138Gln
XM_011543676.1:c.15334G>C XP_011541978.1:p.Glu5112Gln
XM_011543677.1:c.12718G>C XP_011541979.1:p.Glu4240Gln
XM_017009963.2:c.15436G>C XP_016865452.1:p.Glu5146Gln
XM_017009964.2:c.15433G>C XP_016865453.1:p.Glu5145Gln
XM_017009965.1:c.15433G>C XP_016865454.1:p.Glu5145Gln
XM_017009966.2:c.15355G>C XP_016865455.1:p.Glu5119Gln
XM_017009967.1:c.15340G>C XP_016865456.1:p.Glu5114Gln
XM_017009968.2:c.15256G>C XP_016865457.1:p.Glu5086Gln
XM_017009969.2:c.15436G>C XP_016865458.1:p.Glu5146Gln
XM_017009971.2:c.*369G>C XP_016865460.1:n.*369G>C
XM_017009972.1:c.8554G>C XP_016865461.1:p.Glu2852Gln
XM_017009973.1:c.8533G>C XP_016865462.1:p.Glu2845Gln