Canonical Allele Identifier: CA360396065
Community Standard Title: NM_032119.4(ADGRV1):c.3416G>T (p.Trp1139Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90651730G>T , CM000667.2:g.90651730G>T GRCh38
NC_000005.9:g.89947547G>T , CM000667.1:g.89947547G>T GRCh37
NC_000005.8:g.89983303G>T NCBI36
NG_007083.1:g.97931G>T
NG_007083.2:g.127387G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.3416G>T MANE Select NP_115495.3:p.Trp1139Leu
ENST00000405460.9:c.3416G>T MANE Select ENSP00000384582.2:p.Trp1139Leu
NM_032119.3:c.3416G>T NP_115495.3:p.Trp1139Leu
NR_003149.1:n.3512G>T
NR_003149.2:n.3515G>T
ENST00000405460.6:c.3416G>T ENSP00000384582.2:p.Trp1139Leu
ENST00000504142.1:c.2181G>T
ENST00000504142.2:n.2182G>T
ENST00000639676.1:n.1014G>T
ENST00000640403.1:c.719G>T ENSP00000492531.1:p.Trp240Leu
XM_011543675.1:c.3416G>T XP_011541977.1:p.Trp1139Leu
XM_011543676.1:c.3416G>T XP_011541978.1:p.Trp1139Leu
XM_011543677.1:c.719G>T XP_011541979.1:p.Trp240Leu
XM_011543678.1:c.3416G>T XP_011541980.1:p.Trp1139Leu
XM_011543679.1:c.3416G>T XP_011541981.1:p.Trp1139Leu
XM_017009963.2:c.3416G>T XP_016865452.1:p.Trp1139Leu
XM_017009964.2:c.3416G>T XP_016865453.1:p.Trp1139Leu
XM_017009965.1:c.3413G>T XP_016865454.1:p.Trp1138Leu
XM_017009966.2:c.3416G>T XP_016865455.1:p.Trp1139Leu
XM_017009967.1:c.3320G>T XP_016865456.1:p.Trp1107Leu
XM_017009968.2:c.3416G>T XP_016865457.1:p.Trp1139Leu
XM_017009969.2:c.3416G>T XP_016865458.1:p.Trp1139Leu
XM_017009970.2:c.3416G>T XP_016865459.1:p.Trp1139Leu
XM_017009971.2:c.3416G>T XP_016865460.1:p.Trp1139Leu
XM_017009974.2:c.3416G>T XP_016865463.1:p.Trp1139Leu