Canonical Allele Identifier: CA360388808
Community Standard Title: NM_032119.4(ADGRV1):c.2553+1G>A
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90643042G>A , CM000667.2:g.90643042G>A GRCh38
NC_000005.9:g.89938859G>A , CM000667.1:g.89938859G>A GRCh37
NC_000005.8:g.89974615G>A NCBI36
NG_007083.1:g.89243G>A
NG_007083.2:g.118699G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.2553+1G>A MANE Select NP_115495.3:n.2553+1G>A
ENST00000405460.9:c.2553+1G>A MANE Select ENSP00000384582.2:n.2553+1G>A
NM_032119.3:c.2553+1G>A NP_115495.3:n.2553+1G>A
NR_003149.1:n.2649+1G>A
NR_003149.2:n.2652+1G>A
ENST00000405460.6:c.2553+1G>A ENSP00000384582.2:n.2553+1G>A
ENST00000504142.1:c.1318+1G>A
ENST00000504142.2:n.1319+1G>A
ENST00000512205.1:n.463+1G>A
ENST00000639676.1:n.151+1G>A
ENST00000640403.1:c.-145+1G>A ENSP00000492531.1:n.-145+1G>A
XM_011543675.1:c.2553+1G>A XP_011541977.1:n.2553+1G>A
XM_011543676.1:c.2553+1G>A XP_011541978.1:n.2553+1G>A
XM_011543677.1:c.-145+1G>A XP_011541979.1:n.-145+1G>A
XM_011543678.1:c.2553+1G>A XP_011541980.1:n.2553+1G>A
XM_011543679.1:c.2553+1G>A XP_011541981.1:n.2553+1G>A
XM_017009963.2:c.2553+1G>A XP_016865452.1:n.2553+1G>A
XM_017009964.2:c.2553+1G>A XP_016865453.1:n.2553+1G>A
XM_017009965.1:c.2550+1G>A XP_016865454.1:n.2550+1G>A
XM_017009966.2:c.2553+1G>A XP_016865455.1:n.2553+1G>A
XM_017009967.1:c.2457+1G>A XP_016865456.1:n.2457+1G>A
XM_017009968.2:c.2553+1G>A XP_016865457.1:n.2553+1G>A
XM_017009969.2:c.2553+1G>A XP_016865458.1:n.2553+1G>A
XM_017009970.2:c.2553+1G>A XP_016865459.1:n.2553+1G>A
XM_017009971.2:c.2553+1G>A XP_016865460.1:n.2553+1G>A
XM_017009974.2:c.2553+1G>A XP_016865463.1:n.2553+1G>A