Canonical Allele Identifier: CA445467504
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1190635573
gnomAD v2: 5-90086914-A-G
gnomAD v4: 5-90791097-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90791097A>G , CM000667.2:g.90791097A>G GRCh38
NC_000005.9:g.90086914A>G , CM000667.1:g.90086914A>G GRCh37
NC_000005.8:g.90122670A>G NCBI36
NG_007083.1:g.237298A>G
NG_007083.2:g.266754A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.14268A>G MANE Select ENSP00000384582.2:p.Ala4756=
ENST00000425867.3:c.3222A>G ENSP00000392618.3:p.Ala1074=
ENST00000638510.1:n.1535A>G
ENST00000638585.1:n.34A>G
ENST00000638975.1:c.897A>G ENSP00000492630.1:p.Ala299=
ENST00000639431.1:c.265+114888A>G ENSP00000491057.1:n.265+114888A>G
ENST00000640407.1:c.678A>G ENSP00000491425.1:p.Ala226=
ENST00000405460.6:c.14268A>G ENSP00000384582.2:p.Ala4756=
ENST00000425867.2:c.1251A>G ENSP00000392618.2:p.Ala417=
NM_032119.3:c.14268A>G NP_115495.3:p.Ala4756=
NR_003149.1:n.14281A>G
XM_011543675.1:c.14265A>G XP_011541977.1:p.Ala4755=
XM_011543676.1:c.14187A>G XP_011541978.1:p.Ala4729=
XM_011543677.1:c.11571A>G XP_011541979.1:p.Ala3857=
XM_011543678.1:c.14268A>G XP_011541980.1:p.Ala4756=
NM_032119.4:c.14268A>G MANE Select NP_115495.3:p.Ala4756=
XM_017009963.2:c.14289A>G XP_016865452.1:p.Ala4763=
XM_017009964.2:c.14286A>G XP_016865453.1:p.Ala4762=
XM_017009965.1:c.14286A>G XP_016865454.1:p.Ala4762=
XM_017009966.2:c.14208A>G XP_016865455.1:p.Ala4736=
XM_017009967.1:c.14193A>G XP_016865456.1:p.Ala4731=
XM_017009968.2:c.14289A>G XP_016865457.1:p.Ala4763=
XM_017009969.2:c.14289A>G XP_016865458.1:p.Ala4763=
XM_017009970.2:c.14289A>G XP_016865459.1:p.Ala4763=
XM_017009971.2:c.14289A>G XP_016865460.1:p.Ala4763=
XM_017009972.1:c.7407A>G XP_016865461.1:p.Ala2469=
XM_017009973.1:c.7386A>G XP_016865462.1:p.Ala2462=
NR_003149.2:n.14284A>G