Canonical Allele Identifier: CA3342093
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288318
ClinVar RCV Id: RCV000361251
dbSNP Id: rs3763073

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823476C>G , CM000667.2:g.90823476C>G GRCh38
NC_000005.9:g.90119293C>G , CM000667.1:g.90119293C>G GRCh37
NC_000005.8:g.90155049C>G NCBI36
NG_007083.1:g.269677C>G
NG_007083.2:g.299133C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.16248C>G MANE Select ENSP00000384582.2:p.Val5416=
ENST00000425867.3:n.5202C>G ENSP00000392618.3:p.Val1734=
ENST00000638510.1:n.3515C>G
ENST00000639431.1:n.265+147267C>G ENSP00000491057.1:p.=
ENST00000640061.1:n.128+1294C>G
ENST00000640407.1:n.2658C>G ENSP00000491425.1:p.Val886=
ENST00000405460.6:c.16248C>G ENSP00000384582.2:p.Val5416=
ENST00000425867.2:c.3231C>G ENSP00000392618.2:p.Val1077=
NM_032119.3:c.16248C>G NP_115495.3:p.Val5416=
NR_003149.1:n.16261C>G
XM_011543675.1:c.16245C>G XP_011541977.1:p.Val5415=
XM_011543676.1:c.16167C>G XP_011541978.1:p.Val5389=
XM_011543677.1:c.13551C>G XP_011541979.1:p.Val4517=
NM_032119.4:c.16248C>G MANE Select NP_115495.3:p.Val5416=
XM_017009963.2:c.16269C>G XP_016865452.1:p.Val5423=
XM_017009964.2:c.16266C>G XP_016865453.1:p.Val5422=
XM_017009965.1:c.16266C>G XP_016865454.1:p.Val5422=
XM_017009966.2:c.16188C>G XP_016865455.1:p.Val5396=
XM_017009967.1:c.16173C>G XP_016865456.1:p.Val5391=
XM_017009968.2:c.16089C>G XP_016865457.1:p.Val5363=
XM_017009969.2:c.16269C>G XP_016865458.1:p.Val5423=
XM_017009972.1:c.9387C>G XP_016865461.1:p.Val3129=
XM_017009973.1:c.9366C>G XP_016865462.1:p.Val3122=
NR_003149.2:n.16264C>G