Canonical Allele Identifier: CA2697546258
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2708993
ClinVar RCV Id: RCV003547775

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823603A>T , CM000667.2:g.90823603A>T GRCh38
NC_000005.9:g.90119420A>T , CM000667.1:g.90119420A>T GRCh37
NC_000005.8:g.90155176A>T NCBI36
NG_007083.1:g.269804A>T
NG_007083.2:g.299260A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16368+7A>T MANE Select ENSP00000384582.2:n.16368+7A>T
ENST00000425867.3:c.5322+7A>T ENSP00000392618.3:n.5322+7A>T
ENST00000638510.1:n.3635+7A>T
ENST00000639431.1:c.265+147394A>T ENSP00000491057.1:n.265+147394A>T
ENST00000640061.1:n.128+1421A>T
ENST00000640407.1:c.2778+7A>T ENSP00000491425.1:n.2778+7A>T
ENST00000405460.6:c.16368+7A>T ENSP00000384582.2:n.16368+7A>T
ENST00000425867.2:c.3351+7A>T ENSP00000392618.2:n.3351+7A>T
NM_032119.3:c.16368+7A>T NP_115495.3:n.16368+7A>T
NR_003149.1:n.16381+7A>T
XM_011543675.1:c.16365+7A>T XP_011541977.1:n.16365+7A>T
XM_011543676.1:c.16287+7A>T XP_011541978.1:n.16287+7A>T
XM_011543677.1:c.13671+7A>T XP_011541979.1:n.13671+7A>T
NM_032119.4:c.16368+7A>T MANE Select NP_115495.3:n.16368+7A>T
XM_017009963.2:c.16389+7A>T XP_016865452.1:n.16389+7A>T
XM_017009964.2:c.16386+7A>T XP_016865453.1:n.16386+7A>T
XM_017009965.1:c.16386+7A>T XP_016865454.1:n.16386+7A>T
XM_017009966.2:c.16308+7A>T XP_016865455.1:n.16308+7A>T
XM_017009967.1:c.16293+7A>T XP_016865456.1:n.16293+7A>T
XM_017009968.2:c.16209+7A>T XP_016865457.1:n.16209+7A>T
XM_017009969.2:c.16389+7A>T XP_016865458.1:n.16389+7A>T
XM_017009972.1:c.9507+7A>T XP_016865461.1:n.9507+7A>T
XM_017009973.1:c.9486+7A>T XP_016865462.1:n.9486+7A>T
NR_003149.2:n.16384+7A>T