Canonical Allele Identifier: CA360394139
Community Standard Title: NM_032119.4(ADGRV1):c.3289+1G>A
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90647765G>A , CM000667.2:g.90647765G>A GRCh38
NC_000005.9:g.89943582G>A , CM000667.1:g.89943582G>A GRCh37
NC_000005.8:g.89979338G>A NCBI36
NG_007083.1:g.93966G>A
NG_007083.2:g.123422G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.3289+1G>A MANE Select NP_115495.3:n.3289+1G>A
ENST00000405460.9:c.3289+1G>A MANE Select ENSP00000384582.2:n.3289+1G>A
NM_032119.3:c.3289+1G>A NP_115495.3:n.3289+1G>A
NR_003149.1:n.3385+1G>A
NR_003149.2:n.3388+1G>A
ENST00000405460.6:c.3289+1G>A ENSP00000384582.2:n.3289+1G>A
ENST00000504142.1:c.2054+1G>A
ENST00000504142.2:n.2055+1G>A
ENST00000639676.1:n.887+1G>A
ENST00000640403.1:c.592+1G>A ENSP00000492531.1:n.592+1G>A
XM_011543675.1:c.3289+1G>A XP_011541977.1:n.3289+1G>A
XM_011543676.1:c.3289+1G>A XP_011541978.1:n.3289+1G>A
XM_011543677.1:c.592+1G>A XP_011541979.1:n.592+1G>A
XM_011543678.1:c.3289+1G>A XP_011541980.1:n.3289+1G>A
XM_011543679.1:c.3289+1G>A XP_011541981.1:n.3289+1G>A
XM_017009963.2:c.3289+1G>A XP_016865452.1:n.3289+1G>A
XM_017009964.2:c.3289+1G>A XP_016865453.1:n.3289+1G>A
XM_017009965.1:c.3286+1G>A XP_016865454.1:n.3286+1G>A
XM_017009966.2:c.3289+1G>A XP_016865455.1:n.3289+1G>A
XM_017009967.1:c.3193+1G>A XP_016865456.1:n.3193+1G>A
XM_017009968.2:c.3289+1G>A XP_016865457.1:n.3289+1G>A
XM_017009969.2:c.3289+1G>A XP_016865458.1:n.3289+1G>A
XM_017009970.2:c.3289+1G>A XP_016865459.1:n.3289+1G>A
XM_017009971.2:c.3289+1G>A XP_016865460.1:n.3289+1G>A
XM_017009974.2:c.3289+1G>A XP_016865463.1:n.3289+1G>A