Canonical Allele Identifier: CA270124
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 143159
dbSNP Id: rs527236131
gnomAD v2: 5-90106813-C-T
gnomAD v3: 5-90810996-C-T
gnomAD v4: 5-90810996-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810996C>T , CM000667.2:g.90810996C>T GRCh38
NC_000005.9:g.90106813C>T , CM000667.1:g.90106813C>T GRCh37
NC_000005.8:g.90142569C>T NCBI36
NG_007083.1:g.257197C>T
NG_007083.2:g.286653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.15736C>T MANE Select ENSP00000384582.2:p.Arg5246Ter
ENST00000425867.3:c.4690C>T ENSP00000392618.3:p.Arg1564Ter
ENST00000638510.1:n.3003C>T
ENST00000639431.1:c.265+134787C>T ENSP00000491057.1:n.265+134787C>T
ENST00000640407.1:c.2146C>T ENSP00000491425.1:p.Arg716Ter
ENST00000405460.6:c.15736C>T ENSP00000384582.2:p.Arg5246Ter
ENST00000425867.2:c.2719C>T ENSP00000392618.2:p.Arg907Ter
NM_032119.3:c.15736C>T NP_115495.3:p.Arg5246Ter
NR_003149.1:n.15749C>T
XM_011543675.1:c.15733C>T XP_011541977.1:p.Arg5245Ter
XM_011543676.1:c.15655C>T XP_011541978.1:p.Arg5219Ter
XM_011543677.1:c.13039C>T XP_011541979.1:p.Arg4347Ter
NM_032119.4:c.15736C>T MANE Select NP_115495.3:p.Arg5246Ter
XM_017009963.2:c.15757C>T XP_016865452.1:p.Arg5253Ter
XM_017009964.2:c.15754C>T XP_016865453.1:p.Arg5252Ter
XM_017009965.1:c.15754C>T XP_016865454.1:p.Arg5252Ter
XM_017009966.2:c.15676C>T XP_016865455.1:p.Arg5226Ter
XM_017009967.1:c.15661C>T XP_016865456.1:p.Arg5221Ter
XM_017009968.2:c.15577C>T XP_016865457.1:p.Arg5193Ter
XM_017009969.2:c.15757C>T XP_016865458.1:p.Arg5253Ter
XM_017009972.1:c.8875C>T XP_016865461.1:p.Arg2959Ter
XM_017009973.1:c.8854C>T XP_016865462.1:p.Arg2952Ter
NR_003149.2:n.15752C>T