Canonical Allele Identifier: CA291107
Gene: ADGRV1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.90635123G>A
GRCh37 chr5:g.89930940G>A
Revel Score:
ENST00000504142 0.233
ENST00000405460 (MANE Select) 0.254
ENST00000296619 0.254
ENST00000399043 0.254
gnomAD v2:
5:89930940 G / A
gnomAD v3:
5:90635123 G / A
gnomAD v4:
chr5-90635123-G-A
Joint Max Group AF 0.00153501 (MID)
Genomes Max Group AF 0.00081284 (AMR)
Exomes Max Group AF 0.00120842 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90635123G>A , CM000667.2:g.90635123G>A GRCh38
NC_000005.9:g.89930940G>A , CM000667.1:g.89930940G>A GRCh37
NC_000005.8:g.89966696G>A NCBI36
NG_007083.1:g.81324G>A
NG_007083.2:g.110780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.1849G>A MANE Select ENSP00000384582.2:p.Val617Met
ENST00000504142.2:n.615G>A
ENST00000405460.6:c.1849G>A ENSP00000384582.2:p.Val617Met
ENST00000504142.1:c.614G>A
NM_032119.3:c.1849G>A NP_115495.3:p.Val617Met
NR_003149.1:n.1945G>A
XM_011543675.1:c.1849G>A XP_011541977.1:p.Val617Met
XM_011543676.1:c.1849G>A XP_011541978.1:p.Val617Met
XM_011543678.1:c.1849G>A XP_011541980.1:p.Val617Met
XM_011543679.1:c.1849G>A XP_011541981.1:p.Val617Met
NM_032119.4:c.1849G>A MANE Select NP_115495.3:p.Val617Met
XM_017009963.2:c.1849G>A XP_016865452.1:p.Val617Met
XM_017009964.2:c.1849G>A XP_016865453.1:p.Val617Met
XM_017009965.1:c.1846G>A XP_016865454.1:p.Val616Met
XM_017009966.2:c.1849G>A XP_016865455.1:p.Val617Met
XM_017009967.1:c.1753G>A XP_016865456.1:p.Val585Met
XM_017009968.2:c.1849G>A XP_016865457.1:p.Val617Met
XM_017009969.2:c.1849G>A XP_016865458.1:p.Val617Met
XM_017009970.2:c.1849G>A XP_016865459.1:p.Val617Met
XM_017009971.2:c.1849G>A XP_016865460.1:p.Val617Met
XM_017009974.2:c.1849G>A XP_016865463.1:p.Val617Met
NR_003149.2:n.1948G>A
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