Canonical Allele Identifier: CA360410382
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1257970580
gnomAD v2: 5-90106725-T-G
gnomAD v4: 5-90810908-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810908T>G , CM000667.2:g.90810908T>G GRCh38
NC_000005.9:g.90106725T>G , CM000667.1:g.90106725T>G GRCh37
NC_000005.8:g.90142481T>G NCBI36
NG_007083.1:g.257109T>G
NG_007083.2:g.286565T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.15648T>G MANE Select ENSP00000384582.2:p.Ile5216Met
ENST00000425867.3:c.4602T>G ENSP00000392618.3:p.Ile1534Met
ENST00000638510.1:n.2915T>G
ENST00000639431.1:c.265+134699T>G ENSP00000491057.1:n.265+134699T>G
ENST00000640407.1:c.2058T>G ENSP00000491425.1:p.Ile686Met
ENST00000405460.6:c.15648T>G ENSP00000384582.2:p.Ile5216Met
ENST00000425867.2:c.2631T>G ENSP00000392618.2:p.Ile877Met
NM_032119.3:c.15648T>G NP_115495.3:p.Ile5216Met
NR_003149.1:n.15661T>G
XM_011543675.1:c.15645T>G XP_011541977.1:p.Ile5215Met
XM_011543676.1:c.15567T>G XP_011541978.1:p.Ile5189Met
XM_011543677.1:c.12951T>G XP_011541979.1:p.Ile4317Met
NM_032119.4:c.15648T>G MANE Select NP_115495.3:p.Ile5216Met
XM_017009963.2:c.15669T>G XP_016865452.1:p.Ile5223Met
XM_017009964.2:c.15666T>G XP_016865453.1:p.Ile5222Met
XM_017009965.1:c.15666T>G XP_016865454.1:p.Ile5222Met
XM_017009966.2:c.15588T>G XP_016865455.1:p.Ile5196Met
XM_017009967.1:c.15573T>G XP_016865456.1:p.Ile5191Met
XM_017009968.2:c.15489T>G XP_016865457.1:p.Ile5163Met
XM_017009969.2:c.15669T>G XP_016865458.1:p.Ile5223Met
XM_017009972.1:c.8787T>G XP_016865461.1:p.Ile2929Met
XM_017009973.1:c.8766T>G XP_016865462.1:p.Ile2922Met
NR_003149.2:n.15664T>G