Canonical Allele Identifier: CA360390710
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90644771-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90644771C>A , CM000667.2:g.90644771C>A GRCh38
NC_000005.9:g.89940588C>A , CM000667.1:g.89940588C>A GRCh37
NC_000005.8:g.89976344C>A NCBI36
NG_007083.1:g.90972C>A
NG_007083.2:g.120428C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.2800C>A MANE Select ENSP00000384582.2:p.Pro934Thr
ENST00000504142.2:n.1566C>A
ENST00000639676.1:n.398C>A
ENST00000640403.1:c.103C>A ENSP00000492531.1:p.Pro35Thr
ENST00000405460.6:c.2800C>A ENSP00000384582.2:p.Pro934Thr
ENST00000504142.1:c.1565C>A
NM_032119.3:c.2800C>A NP_115495.3:p.Pro934Thr
NR_003149.1:n.2896C>A
XM_011543675.1:c.2800C>A XP_011541977.1:p.Pro934Thr
XM_011543676.1:c.2800C>A XP_011541978.1:p.Pro934Thr
XM_011543677.1:c.103C>A XP_011541979.1:p.Pro35Thr
XM_011543678.1:c.2800C>A XP_011541980.1:p.Pro934Thr
XM_011543679.1:c.2800C>A XP_011541981.1:p.Pro934Thr
NM_032119.4:c.2800C>A MANE Select NP_115495.3:p.Pro934Thr
XM_017009963.2:c.2800C>A XP_016865452.1:p.Pro934Thr
XM_017009964.2:c.2800C>A XP_016865453.1:p.Pro934Thr
XM_017009965.1:c.2797C>A XP_016865454.1:p.Pro933Thr
XM_017009966.2:c.2800C>A XP_016865455.1:p.Pro934Thr
XM_017009967.1:c.2704C>A XP_016865456.1:p.Pro902Thr
XM_017009968.2:c.2800C>A XP_016865457.1:p.Pro934Thr
XM_017009969.2:c.2800C>A XP_016865458.1:p.Pro934Thr
XM_017009970.2:c.2800C>A XP_016865459.1:p.Pro934Thr
XM_017009971.2:c.2800C>A XP_016865460.1:p.Pro934Thr
XM_017009974.2:c.2800C>A XP_016865463.1:p.Pro934Thr
NR_003149.2:n.2899C>A