Canonical Allele Identifier: CA561259782
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1448099340
gnomAD v2: 5-89988626-T-G
gnomAD v4: 5-90692809-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692809T>G , CM000667.2:g.90692809T>G GRCh38
NC_000005.9:g.89988626T>G , CM000667.1:g.89988626T>G GRCh37
NC_000005.8:g.90024382T>G NCBI36
NG_007083.1:g.139010T>G
NG_007083.2:g.168466T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7133+23T>G MANE Select ENSP00000384582.2:n.7133+23T>G
ENST00000639431.1:c.265+16600T>G ENSP00000491057.1:n.265+16600T>G
ENST00000639473.1:n.2592+23T>G
ENST00000640012.1:c.940+23T>G
ENST00000640374.1:n.277+23T>G
ENST00000640403.1:c.4424+23T>G ENSP00000492531.1:n.4424+23T>G
ENST00000640779.1:c.1862+23T>G
ENST00000405460.6:c.7133+23T>G ENSP00000384582.2:n.7133+23T>G
NM_032119.3:c.7133+23T>G NP_115495.3:n.7133+23T>G
NR_003149.1:n.7146+23T>G
XM_011543675.1:c.7130+23T>G XP_011541977.1:n.7130+23T>G
XM_011543676.1:c.7052+23T>G XP_011541978.1:n.7052+23T>G
XM_011543677.1:c.4436+23T>G XP_011541979.1:n.4436+23T>G
XM_011543678.1:c.7133+23T>G XP_011541980.1:n.7133+23T>G
XM_011543679.1:c.7133+23T>G XP_011541981.1:n.7133+23T>G
NM_032119.4:c.7133+23T>G MANE Select NP_115495.3:n.7133+23T>G
XM_017009963.2:c.7133+23T>G XP_016865452.1:n.7133+23T>G
XM_017009964.2:c.7130+23T>G XP_016865453.1:n.7130+23T>G
XM_017009965.1:c.7130+23T>G XP_016865454.1:n.7130+23T>G
XM_017009966.2:c.7052+23T>G XP_016865455.1:n.7052+23T>G
XM_017009967.1:c.7037+23T>G XP_016865456.1:n.7037+23T>G
XM_017009968.2:c.7133+23T>G XP_016865457.1:n.7133+23T>G
XM_017009969.2:c.7133+23T>G XP_016865458.1:n.7133+23T>G
XM_017009970.2:c.7133+23T>G XP_016865459.1:n.7133+23T>G
XM_017009971.2:c.7133+23T>G XP_016865460.1:n.7133+23T>G
XM_017009972.1:c.251+23T>G XP_016865461.1:n.251+23T>G
XM_017009973.1:c.251+23T>G XP_016865462.1:n.251+23T>G
XM_017009974.2:c.7133+23T>G XP_016865463.1:n.7133+23T>G
NR_003149.2:n.7149+23T>G