Canonical Allele Identifier: CA360397778
Community Standard Title: NM_032119.4(ADGRV1):c.9430G>T (p.Glu3144Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90716712G>T , CM000667.2:g.90716712G>T GRCh38
NC_000005.9:g.90012529G>T , CM000667.1:g.90012529G>T GRCh37
NC_000005.8:g.90048285G>T NCBI36
NG_007083.1:g.162913G>T
NG_007083.2:g.192369G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9430G>T MANE Select NP_115495.3:p.Glu3144Ter
ENST00000405460.9:c.9430G>T MANE Select ENSP00000384582.2:p.Glu3144Ter
NM_032119.3:c.9430G>T NP_115495.3:p.Glu3144Ter
NR_003149.1:n.9443G>T
NR_003149.2:n.9446G>T
ENST00000405460.6:c.9430G>T ENSP00000384582.2:p.Glu3144Ter
ENST00000509621.1:c.2127G>T
ENST00000639431.1:c.265+40503G>T ENSP00000491057.1:n.265+40503G>T
ENST00000639473.1:n.4889G>T
ENST00000640012.1:c.3237G>T
ENST00000640374.1:n.2574G>T
ENST00000640779.1:c.4159G>T
XM_011543675.1:c.9427G>T XP_011541977.1:p.Glu3143Ter
XM_011543676.1:c.9349G>T XP_011541978.1:p.Glu3117Ter
XM_011543677.1:c.6733G>T XP_011541979.1:p.Glu2245Ter
XM_011543678.1:c.9430G>T XP_011541980.1:p.Glu3144Ter
XM_011543679.1:c.9430G>T XP_011541981.1:p.Glu3144Ter
XM_017009963.2:c.9451G>T XP_016865452.1:p.Glu3151Ter
XM_017009964.2:c.9448G>T XP_016865453.1:p.Glu3150Ter
XM_017009965.1:c.9448G>T XP_016865454.1:p.Glu3150Ter
XM_017009966.2:c.9370G>T XP_016865455.1:p.Glu3124Ter
XM_017009967.1:c.9355G>T XP_016865456.1:p.Glu3119Ter
XM_017009968.2:c.9451G>T XP_016865457.1:p.Glu3151Ter
XM_017009969.2:c.9451G>T XP_016865458.1:p.Glu3151Ter
XM_017009970.2:c.9451G>T XP_016865459.1:p.Glu3151Ter
XM_017009971.2:c.9451G>T XP_016865460.1:p.Glu3151Ter
XM_017009972.1:c.2569G>T XP_016865461.1:p.Glu857Ter
XM_017009973.1:c.2548G>T XP_016865462.1:p.Glu850Ter
XM_017009974.2:c.9451G>T XP_016865463.1:p.Glu3151Ter
XR_001742802.1:n.2523-903C>A
XR_948560.1:n.272-903C>A