Canonical Allele Identifier: CA3339424
Community Standard Title: NM_032119.4(ADGRV1):c.4868T>G (p.Leu1623Arg)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90672661T>G , CM000667.2:g.90672661T>G GRCh38
NC_000005.9:g.89968478T>G , CM000667.1:g.89968478T>G GRCh37
NC_000005.8:g.90004234T>G NCBI36
NG_007083.1:g.118862T>G
NG_007083.2:g.148318T>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.4868T>G MANE Select NP_115495.3:p.Leu1623Arg
ENST00000405460.9:c.4868T>G MANE Select ENSP00000384582.2:p.Leu1623Arg
NM_032119.3:c.4868T>G NP_115495.3:p.Leu1623Arg
NR_003149.1:n.4964T>G
NR_003149.2:n.4967T>G
ENST00000405460.6:c.4868T>G ENSP00000384582.2:p.Leu1623Arg
ENST00000450321.2:n.108T>G
ENST00000639473.1:n.327T>G
ENST00000639676.1:n.2466T>G
ENST00000640403.1:c.2159T>G ENSP00000492531.1:p.Leu720Arg
XM_011543675.1:c.4868T>G XP_011541977.1:p.Leu1623Arg
XM_011543676.1:c.4868T>G XP_011541978.1:p.Leu1623Arg
XM_011543677.1:c.2171T>G XP_011541979.1:p.Leu724Arg
XM_011543678.1:c.4868T>G XP_011541980.1:p.Leu1623Arg
XM_011543679.1:c.4868T>G XP_011541981.1:p.Leu1623Arg
XM_017009963.2:c.4868T>G XP_016865452.1:p.Leu1623Arg
XM_017009964.2:c.4868T>G XP_016865453.1:p.Leu1623Arg
XM_017009965.1:c.4865T>G XP_016865454.1:p.Leu1622Arg
XM_017009966.2:c.4868T>G XP_016865455.1:p.Leu1623Arg
XM_017009967.1:c.4772T>G XP_016865456.1:p.Leu1591Arg
XM_017009968.2:c.4868T>G XP_016865457.1:p.Leu1623Arg
XM_017009969.2:c.4868T>G XP_016865458.1:p.Leu1623Arg
XM_017009970.2:c.4868T>G XP_016865459.1:p.Leu1623Arg
XM_017009971.2:c.4868T>G XP_016865460.1:p.Leu1623Arg
XM_017009974.2:c.4868T>G XP_016865463.1:p.Leu1623Arg