Canonical Allele Identifier: CA122804274
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs948372835
gnomAD v2: 5-90119642-C-G
gnomAD v3: 5-90823825-C-G
gnomAD v4: 5-90823825-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823825C>G , CM000667.2:g.90823825C>G GRCh38
NC_000005.9:g.90119642C>G , CM000667.1:g.90119642C>G GRCh37
NC_000005.8:g.90155398C>G NCBI36
NG_007083.1:g.270026C>G
NG_007083.2:g.299482C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16368+229C>G MANE Select ENSP00000384582.2:n.16368+229C>G
ENST00000425867.3:c.5322+229C>G ENSP00000392618.3:n.5322+229C>G
ENST00000638510.1:n.3635+229C>G
ENST00000639431.1:c.265+147616C>G ENSP00000491057.1:n.265+147616C>G
ENST00000640061.1:n.128+1643C>G
ENST00000640407.1:c.2778+229C>G ENSP00000491425.1:n.2778+229C>G
ENST00000405460.6:c.16368+229C>G ENSP00000384582.2:n.16368+229C>G
ENST00000425867.2:c.3351+229C>G ENSP00000392618.2:n.3351+229C>G
NM_032119.3:c.16368+229C>G NP_115495.3:n.16368+229C>G
NR_003149.1:n.16381+229C>G
XM_011543675.1:c.16365+229C>G XP_011541977.1:n.16365+229C>G
XM_011543676.1:c.16287+229C>G XP_011541978.1:n.16287+229C>G
XM_011543677.1:c.13671+229C>G XP_011541979.1:n.13671+229C>G
NM_032119.4:c.16368+229C>G MANE Select NP_115495.3:n.16368+229C>G
XM_017009963.2:c.16389+229C>G XP_016865452.1:n.16389+229C>G
XM_017009964.2:c.16386+229C>G XP_016865453.1:n.16386+229C>G
XM_017009965.1:c.16386+229C>G XP_016865454.1:n.16386+229C>G
XM_017009966.2:c.16308+229C>G XP_016865455.1:n.16308+229C>G
XM_017009967.1:c.16293+229C>G XP_016865456.1:n.16293+229C>G
XM_017009968.2:c.16209+229C>G XP_016865457.1:n.16209+229C>G
XM_017009969.2:c.16389+229C>G XP_016865458.1:n.16389+229C>G
XM_017009972.1:c.9507+229C>G XP_016865461.1:n.9507+229C>G
XM_017009973.1:c.9486+229C>G XP_016865462.1:n.9486+229C>G
NR_003149.2:n.16384+229C>G