Canonical Allele Identifier: CA360431972
Community Standard Title: NM_032119.4(ADGRV1):c.18310+1G>A
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.91072605G>A , CM000667.2:g.91072605G>A GRCh38
NC_000005.9:g.90368422G>A , CM000667.1:g.90368422G>A GRCh37
NC_000005.8:g.90404178G>A NCBI36
NG_007083.1:g.518806G>A
NG_007083.2:g.548262G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.18310+1G>A MANE Select NP_115495.3:n.18310+1G>A
ENST00000405460.9:c.18310+1G>A MANE Select ENSP00000384582.2:n.18310+1G>A
NM_032119.3:c.18310+1G>A NP_115495.3:n.18310+1G>A
NR_003149.1:n.18323+1G>A
NR_003149.2:n.18326+1G>A
ENST00000405460.6:c.18310+1G>A ENSP00000384582.2:n.18310+1G>A
ENST00000425867.2:c.5293+1G>A ENSP00000392618.2:n.5293+1G>A
ENST00000425867.3:c.7264+1G>A ENSP00000392618.3:n.7264+1G>A
ENST00000638510.1:n.5577+1G>A
ENST00000638990.1:c.1522+1G>A
ENST00000639431.1:c.602+1G>A ENSP00000491057.1:n.602+1G>A
ENST00000639821.1:c.394+1G>A ENSP00000492216.1:n.394+1G>A
ENST00000640407.1:c.4759+1G>A ENSP00000491425.1:n.4759+1G>A
ENST00000640815.1:c.394+1G>A ENSP00000491767.1:n.394+1G>A
XM_011543675.1:c.18307+1G>A XP_011541977.1:n.18307+1G>A
XM_011543676.1:c.18229+1G>A XP_011541978.1:n.18229+1G>A
XM_011543677.1:c.15613+1G>A XP_011541979.1:n.15613+1G>A
XM_017009963.2:c.18331+1G>A XP_016865452.1:n.18331+1G>A
XM_017009964.2:c.18328+1G>A XP_016865453.1:n.18328+1G>A
XM_017009965.1:c.18328+1G>A XP_016865454.1:n.18328+1G>A
XM_017009966.2:c.18250+1G>A XP_016865455.1:n.18250+1G>A
XM_017009967.1:c.18235+1G>A XP_016865456.1:n.18235+1G>A
XM_017009968.2:c.18151+1G>A XP_016865457.1:n.18151+1G>A
XM_017009969.2:c.18331+1G>A XP_016865458.1:n.18331+1G>A
XM_017009972.1:c.11449+1G>A XP_016865461.1:n.11449+1G>A
XM_017009973.1:c.11428+1G>A XP_016865462.1:n.11428+1G>A