Canonical Allele Identifier: CA3339877
Community Standard Title: NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90690885C>T , CM000667.2:g.90690885C>T GRCh38
NC_000005.9:g.89986702C>T , CM000667.1:g.89986702C>T GRCh37
NC_000005.8:g.90022458C>T NCBI36
NG_007083.1:g.137086C>T
NG_007083.2:g.166542C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.6795C>T MANE Select NP_115495.3:p.Leu2265=
ENST00000405460.9:c.6795C>T MANE Select ENSP00000384582.2:p.Leu2265=
NM_032119.3:c.6795C>T NP_115495.3:p.Leu2265=
NR_003149.1:n.6891C>T
NR_003149.2:n.6894C>T
ENST00000405460.6:c.6795C>T ENSP00000384582.2:p.Leu2265=
ENST00000639431.1:c.265+14676C>T ENSP00000491057.1:n.265+14676C>T
ENST00000639473.1:n.2254C>T
ENST00000640012.1:c.685C>T
ENST00000640403.1:c.4086C>T ENSP00000492531.1:p.Leu1362=
ENST00000640779.1:c.1607C>T
XM_011543675.1:c.6792C>T XP_011541977.1:p.Leu2264=
XM_011543676.1:c.6714C>T XP_011541978.1:p.Leu2238=
XM_011543677.1:c.4098C>T XP_011541979.1:p.Leu1366=
XM_011543678.1:c.6795C>T XP_011541980.1:p.Leu2265=
XM_011543679.1:c.6795C>T XP_011541981.1:p.Leu2265=
XM_017009963.2:c.6795C>T XP_016865452.1:p.Leu2265=
XM_017009964.2:c.6792C>T XP_016865453.1:p.Leu2264=
XM_017009965.1:c.6792C>T XP_016865454.1:p.Leu2264=
XM_017009966.2:c.6714C>T XP_016865455.1:p.Leu2238=
XM_017009967.1:c.6699C>T XP_016865456.1:p.Leu2233=
XM_017009968.2:c.6795C>T XP_016865457.1:p.Leu2265=
XM_017009969.2:c.6795C>T XP_016865458.1:p.Leu2265=
XM_017009970.2:c.6795C>T XP_016865459.1:p.Leu2265=
XM_017009971.2:c.6795C>T XP_016865460.1:p.Leu2265=
XM_017009972.1:c.-5C>T XP_016865461.1:n.-5C>T
XM_017009973.1:c.-5C>T XP_016865462.1:n.-5C>T
XM_017009974.2:c.6795C>T XP_016865463.1:p.Leu2265=