Canonical Allele Identifier: CA561260035
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1195129545
gnomAD v2: 5-90059115-C-T
gnomAD v3: 5-90763298-C-T
gnomAD v4: 5-90763298-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90763298C>T , CM000667.2:g.90763298C>T GRCh38
NC_000005.9:g.90059115C>T , CM000667.1:g.90059115C>T GRCh37
NC_000005.8:g.90094871C>T NCBI36
NG_007083.1:g.209499C>T
NG_007083.2:g.238955C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.12121-7C>T MANE Select ENSP00000384582.2:n.12121-7C>T
ENST00000425867.3:c.1075-7C>T ENSP00000392618.3:n.1075-7C>T
ENST00000639431.1:c.265+87089C>T ENSP00000491057.1:n.265+87089C>T
ENST00000640464.1:n.2540-7C>T
ENST00000640729.1:n.691C>T
ENST00000405460.6:c.12121-7C>T ENSP00000384582.2:n.12121-7C>T
NM_032119.3:c.12121-7C>T NP_115495.3:n.12121-7C>T
NR_003149.1:n.12134-7C>T
XM_011543675.1:c.12118-7C>T XP_011541977.1:n.12118-7C>T
XM_011543676.1:c.12040-7C>T XP_011541978.1:n.12040-7C>T
XM_011543677.1:c.9424-7C>T XP_011541979.1:n.9424-7C>T
XM_011543678.1:c.12121-7C>T XP_011541980.1:n.12121-7C>T
NM_032119.4:c.12121-7C>T MANE Select NP_115495.3:n.12121-7C>T
XM_017009963.2:c.12142-7C>T XP_016865452.1:n.12142-7C>T
XM_017009964.2:c.12139-7C>T XP_016865453.1:n.12139-7C>T
XM_017009965.1:c.12139-7C>T XP_016865454.1:n.12139-7C>T
XM_017009966.2:c.12061-7C>T XP_016865455.1:n.12061-7C>T
XM_017009967.1:c.12046-7C>T XP_016865456.1:n.12046-7C>T
XM_017009968.2:c.12142-7C>T XP_016865457.1:n.12142-7C>T
XM_017009969.2:c.12142-7C>T XP_016865458.1:n.12142-7C>T
XM_017009970.2:c.12142-7C>T XP_016865459.1:n.12142-7C>T
XM_017009971.2:c.12142-7C>T XP_016865460.1:n.12142-7C>T
XM_017009972.1:c.5260-7C>T XP_016865461.1:n.5260-7C>T
XM_017009973.1:c.5239-7C>T XP_016865462.1:n.5239-7C>T
NR_003149.2:n.12137-7C>T