Canonical Allele Identifier: CA3339958
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs560574342
gnomAD v2: 5-89988523-A-T
gnomAD v3: 5-90692706-A-T
gnomAD v4: 5-90692706-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692706A>T , CM000667.2:g.90692706A>T GRCh38
NC_000005.9:g.89988523A>T , CM000667.1:g.89988523A>T GRCh37
NC_000005.8:g.90024279A>T NCBI36
NG_007083.1:g.138907A>T
NG_007083.2:g.168363A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7053A>T MANE Select ENSP00000384582.2:p.Thr2351=
ENST00000639431.1:c.265+16497A>T ENSP00000491057.1:n.265+16497A>T
ENST00000639473.1:n.2512A>T
ENST00000640012.1:c.860A>T
ENST00000640374.1:n.197A>T
ENST00000640403.1:c.4344A>T ENSP00000492531.1:p.Thr1448=
ENST00000640779.1:c.1782A>T
ENST00000405460.6:c.7053A>T ENSP00000384582.2:p.Thr2351=
NM_032119.3:c.7053A>T NP_115495.3:p.Thr2351=
NR_003149.1:n.7066A>T
XM_011543675.1:c.7050A>T XP_011541977.1:p.Thr2350=
XM_011543676.1:c.6972A>T XP_011541978.1:p.Thr2324=
XM_011543677.1:c.4356A>T XP_011541979.1:p.Thr1452=
XM_011543678.1:c.7053A>T XP_011541980.1:p.Thr2351=
XM_011543679.1:c.7053A>T XP_011541981.1:p.Thr2351=
NM_032119.4:c.7053A>T MANE Select NP_115495.3:p.Thr2351=
XM_017009963.2:c.7053A>T XP_016865452.1:p.Thr2351=
XM_017009964.2:c.7050A>T XP_016865453.1:p.Thr2350=
XM_017009965.1:c.7050A>T XP_016865454.1:p.Thr2350=
XM_017009966.2:c.6972A>T XP_016865455.1:p.Thr2324=
XM_017009967.1:c.6957A>T XP_016865456.1:p.Thr2319=
XM_017009968.2:c.7053A>T XP_016865457.1:p.Thr2351=
XM_017009969.2:c.7053A>T XP_016865458.1:p.Thr2351=
XM_017009970.2:c.7053A>T XP_016865459.1:p.Thr2351=
XM_017009971.2:c.7053A>T XP_016865460.1:p.Thr2351=
XM_017009972.1:c.171A>T XP_016865461.1:p.Thr57=
XM_017009973.1:c.171A>T XP_016865462.1:p.Thr57=
XM_017009974.2:c.7053A>T XP_016865463.1:p.Thr2351=
NR_003149.2:n.7069A>T