Canonical Allele Identifier: CA360425774
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs765387479
gnomAD v2: 5-90119405-C-G
gnomAD v4: 5-90823588-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823588C>G , CM000667.2:g.90823588C>G GRCh38
NC_000005.9:g.90119405C>G , CM000667.1:g.90119405C>G GRCh37
NC_000005.8:g.90155161C>G NCBI36
NG_007083.1:g.269789C>G
NG_007083.2:g.299245C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16360C>G MANE Select ENSP00000384582.2:p.Pro5454Ala
ENST00000425867.3:c.5314C>G ENSP00000392618.3:p.Pro1772Ala
ENST00000638510.1:n.3627C>G
ENST00000639431.1:c.265+147379C>G ENSP00000491057.1:n.265+147379C>G
ENST00000640061.1:n.128+1406C>G
ENST00000640407.1:c.2770C>G ENSP00000491425.1:p.Pro924Ala
ENST00000405460.6:c.16360C>G ENSP00000384582.2:p.Pro5454Ala
ENST00000425867.2:c.3343C>G ENSP00000392618.2:p.Pro1115Ala
NM_032119.3:c.16360C>G NP_115495.3:p.Pro5454Ala
NR_003149.1:n.16373C>G
XM_011543675.1:c.16357C>G XP_011541977.1:p.Pro5453Ala
XM_011543676.1:c.16279C>G XP_011541978.1:p.Pro5427Ala
XM_011543677.1:c.13663C>G XP_011541979.1:p.Pro4555Ala
NM_032119.4:c.16360C>G MANE Select NP_115495.3:p.Pro5454Ala
XM_017009963.2:c.16381C>G XP_016865452.1:p.Pro5461Ala
XM_017009964.2:c.16378C>G XP_016865453.1:p.Pro5460Ala
XM_017009965.1:c.16378C>G XP_016865454.1:p.Pro5460Ala
XM_017009966.2:c.16300C>G XP_016865455.1:p.Pro5434Ala
XM_017009967.1:c.16285C>G XP_016865456.1:p.Pro5429Ala
XM_017009968.2:c.16201C>G XP_016865457.1:p.Pro5401Ala
XM_017009969.2:c.16381C>G XP_016865458.1:p.Pro5461Ala
XM_017009972.1:c.9499C>G XP_016865461.1:p.Pro3167Ala
XM_017009973.1:c.9478C>G XP_016865462.1:p.Pro3160Ala
NR_003149.2:n.16376C>G