Canonical Allele Identifier: CA246318
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197928
dbSNP Id: rs200946170

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90745059T>C , CM000667.2:g.90745059T>C GRCh38
NC_000005.9:g.90040876T>C , CM000667.1:g.90040876T>C GRCh37
NC_000005.8:g.90076632T>C NCBI36
NG_007083.1:g.191260T>C
NG_007083.2:g.220716T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.10563T>C MANE Select ENSP00000384582.2:p.Leu3521=
ENST00000639431.1:n.265+68850T>C ENSP00000491057.1:p.=
ENST00000640374.1:n.3707T>C
ENST00000640464.1:n.982T>C
ENST00000405460.6:c.10563T>C ENSP00000384582.2:p.Leu3521=
ENST00000509621.1:n.3260T>C
NM_032119.3:c.10563T>C NP_115495.3:p.Leu3521=
NR_003149.1:n.10576T>C
XM_011543675.1:c.10560T>C XP_011541977.1:p.Leu3520=
XM_011543676.1:c.10482T>C XP_011541978.1:p.Leu3494=
XM_011543677.1:c.7866T>C XP_011541979.1:p.Leu2622=
XM_011543678.1:c.10563T>C XP_011541980.1:p.Leu3521=
XM_011543679.1:c.10563T>C XP_011541981.1:p.Leu3521=
NM_032119.4:c.10563T>C MANE Select NP_115495.3:p.Leu3521=
XM_017009963.2:c.10584T>C XP_016865452.1:p.Leu3528=
XM_017009964.2:c.10581T>C XP_016865453.1:p.Leu3527=
XM_017009965.1:c.10581T>C XP_016865454.1:p.Leu3527=
XM_017009966.2:c.10503T>C XP_016865455.1:p.Leu3501=
XM_017009967.1:c.10488T>C XP_016865456.1:p.Leu3496=
XM_017009968.2:c.10584T>C XP_016865457.1:p.Leu3528=
XM_017009969.2:c.10584T>C XP_016865458.1:p.Leu3528=
XM_017009970.2:c.10584T>C XP_016865459.1:p.Leu3528=
XM_017009971.2:c.10584T>C XP_016865460.1:p.Leu3528=
XM_017009972.1:c.3702T>C XP_016865461.1:p.Leu1234=
XM_017009973.1:c.3681T>C XP_016865462.1:p.Leu1227=
XM_017009974.2:c.10584T>C XP_016865463.1:p.Leu3528=
NR_003149.2:n.10579T>C