Canonical Allele Identifier: CA138236
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 46386
dbSNP Id: rs201963060

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90703670A>G , CM000667.2:g.90703670A>G GRCh38
NC_000005.9:g.89999487A>G , CM000667.1:g.89999487A>G GRCh37
NC_000005.8:g.90035243A>G NCBI36
NG_007083.1:g.149871A>G
NG_007083.2:g.179327A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.8161A>G MANE Select ENSP00000384582.2:p.Ile2721Val
ENST00000639431.1:n.265+27461A>G ENSP00000491057.1:p.=
ENST00000639473.1:n.3620A>G
ENST00000640012.1:n.1968A>G
ENST00000640374.1:n.1305A>G
ENST00000640403.1:c.5452A>G ENSP00000492531.1:p.Ile1818Val
ENST00000640779.1:n.2890A>G
ENST00000405460.6:c.8161A>G ENSP00000384582.2:p.Ile2721Val
ENST00000509621.1:n.858A>G
NM_032119.3:c.8161A>G NP_115495.3:p.Ile2721Val
NR_003149.1:n.8174A>G
XM_011543675.1:c.8158A>G XP_011541977.1:p.Ile2720Val
XM_011543676.1:c.8080A>G XP_011541978.1:p.Ile2694Val
XM_011543677.1:c.5464A>G XP_011541979.1:p.Ile1822Val
XM_011543678.1:c.8161A>G XP_011541980.1:p.Ile2721Val
XM_011543679.1:c.8161A>G XP_011541981.1:p.Ile2721Val
NM_032119.4:c.8161A>G MANE Select NP_115495.3:p.Ile2721Val
XM_017009963.2:c.8161A>G XP_016865452.1:p.Ile2721Val
XM_017009964.2:c.8158A>G XP_016865453.1:p.Ile2720Val
XM_017009965.1:c.8158A>G XP_016865454.1:p.Ile2720Val
XM_017009966.2:c.8080A>G XP_016865455.1:p.Ile2694Val
XM_017009967.1:c.8065A>G XP_016865456.1:p.Ile2689Val
XM_017009968.2:c.8161A>G XP_016865457.1:p.Ile2721Val
XM_017009969.2:c.8161A>G XP_016865458.1:p.Ile2721Val
XM_017009970.2:c.8161A>G XP_016865459.1:p.Ile2721Val
XM_017009971.2:c.8161A>G XP_016865460.1:p.Ile2721Val
XM_017009972.1:c.1279A>G XP_016865461.1:p.Ile427Val
XM_017009973.1:c.1279A>G XP_016865462.1:p.Ile427Val
XM_017009974.2:c.8161A>G XP_016865463.1:p.Ile2721Val
NR_003149.2:n.8177A>G