Canonical Allele Identifier: CA3340065
Community Standard Title: NM_032119.4(ADGRV1):c.7624C>G (p.Leu2542Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90694380C>G , CM000667.2:g.90694380C>G GRCh38
NC_000005.9:g.89990197C>G , CM000667.1:g.89990197C>G GRCh37
NC_000005.8:g.90025953C>G NCBI36
NG_007083.1:g.140581C>G
NG_007083.2:g.170037C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.7624C>G MANE Select NP_115495.3:p.Leu2542Val
ENST00000405460.9:c.7624C>G MANE Select ENSP00000384582.2:p.Leu2542Val
NM_032119.3:c.7624C>G NP_115495.3:p.Leu2542Val
NR_003149.1:n.7637C>G
NR_003149.2:n.7640C>G
ENST00000405460.6:c.7624C>G ENSP00000384582.2:p.Leu2542Val
ENST00000509621.1:c.321C>G
ENST00000639431.1:c.265+18171C>G ENSP00000491057.1:n.265+18171C>G
ENST00000639473.1:n.3083C>G
ENST00000640012.1:c.1431C>G
ENST00000640374.1:n.768C>G
ENST00000640403.1:c.4915C>G ENSP00000492531.1:p.Leu1639Val
ENST00000640779.1:c.2353C>G
XM_011543675.1:c.7621C>G XP_011541977.1:p.Leu2541Val
XM_011543676.1:c.7543C>G XP_011541978.1:p.Leu2515Val
XM_011543677.1:c.4927C>G XP_011541979.1:p.Leu1643Val
XM_011543678.1:c.7624C>G XP_011541980.1:p.Leu2542Val
XM_011543679.1:c.7624C>G XP_011541981.1:p.Leu2542Val
XM_017009963.2:c.7624C>G XP_016865452.1:p.Leu2542Val
XM_017009964.2:c.7621C>G XP_016865453.1:p.Leu2541Val
XM_017009965.1:c.7621C>G XP_016865454.1:p.Leu2541Val
XM_017009966.2:c.7543C>G XP_016865455.1:p.Leu2515Val
XM_017009967.1:c.7528C>G XP_016865456.1:p.Leu2510Val
XM_017009968.2:c.7624C>G XP_016865457.1:p.Leu2542Val
XM_017009969.2:c.7624C>G XP_016865458.1:p.Leu2542Val
XM_017009970.2:c.7624C>G XP_016865459.1:p.Leu2542Val
XM_017009971.2:c.7624C>G XP_016865460.1:p.Leu2542Val
XM_017009972.1:c.742C>G XP_016865461.1:p.Leu248Val
XM_017009973.1:c.742C>G XP_016865462.1:p.Leu248Val
XM_017009974.2:c.7624C>G XP_016865463.1:p.Leu2542Val