Canonical Allele Identifier: CA3340050
Community Standard Title: NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90694283A>G , CM000667.2:g.90694283A>G GRCh38
NC_000005.9:g.89990100A>G , CM000667.1:g.89990100A>G GRCh37
NC_000005.8:g.90025856A>G NCBI36
NG_007083.1:g.140484A>G
NG_007083.2:g.169940A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.7527A>G MANE Select NP_115495.3:p.Gln2509=
ENST00000405460.9:c.7527A>G MANE Select ENSP00000384582.2:p.Gln2509=
NM_032119.3:c.7527A>G NP_115495.3:p.Gln2509=
NR_003149.1:n.7540A>G
NR_003149.2:n.7543A>G
ENST00000405460.6:c.7527A>G ENSP00000384582.2:p.Gln2509=
ENST00000509621.1:c.224A>G
ENST00000639431.1:c.265+18074A>G ENSP00000491057.1:n.265+18074A>G
ENST00000639473.1:n.2986A>G
ENST00000640012.1:c.1334A>G
ENST00000640374.1:n.671A>G
ENST00000640403.1:c.4818A>G ENSP00000492531.1:p.Gln1606=
ENST00000640779.1:c.2256A>G
XM_011543675.1:c.7524A>G XP_011541977.1:p.Gln2508=
XM_011543676.1:c.7446A>G XP_011541978.1:p.Gln2482=
XM_011543677.1:c.4830A>G XP_011541979.1:p.Gln1610=
XM_011543678.1:c.7527A>G XP_011541980.1:p.Gln2509=
XM_011543679.1:c.7527A>G XP_011541981.1:p.Gln2509=
XM_017009963.2:c.7527A>G XP_016865452.1:p.Gln2509=
XM_017009964.2:c.7524A>G XP_016865453.1:p.Gln2508=
XM_017009965.1:c.7524A>G XP_016865454.1:p.Gln2508=
XM_017009966.2:c.7446A>G XP_016865455.1:p.Gln2482=
XM_017009967.1:c.7431A>G XP_016865456.1:p.Gln2477=
XM_017009968.2:c.7527A>G XP_016865457.1:p.Gln2509=
XM_017009969.2:c.7527A>G XP_016865458.1:p.Gln2509=
XM_017009970.2:c.7527A>G XP_016865459.1:p.Gln2509=
XM_017009971.2:c.7527A>G XP_016865460.1:p.Gln2509=
XM_017009972.1:c.645A>G XP_016865461.1:p.Gln215=
XM_017009973.1:c.645A>G XP_016865462.1:p.Gln215=
XM_017009974.2:c.7527A>G XP_016865463.1:p.Gln2509=