Canonical Allele Identifier: CA182202

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 178372
• ClinVar RCV Id: RCV000155118 ; RCV000724031 ; RCV001157635 ; RCV003988829
• dbSNP Id: rs201890097
• ExAC: 5:90119357 A / G
• gnomAD v2: 5-90119357-A-G
• gnomAD v3: 5-90823540-A-G
• gnomAD v4: 5-90823540-A-G
• MyVariant Identifiers: chr5:g.90119357A>G (hg19) ; chr5:g.90823540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823540A>G , CM000667.2:g.90823540A>G	GRCh38
NC_000005.9:g.90119357A>G , CM000667.1:g.90119357A>G	GRCh37
NC_000005.8:g.90155113A>G	NCBI36
NG_007083.1:g.269741A>G
NG_007083.2:g.299197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16312A>G MANE Select	ENSP00000384582.2:p.Thr5438Ala
ENST00000425867.3:c.5266A>G	ENSP00000392618.3:p.Thr1756Ala
ENST00000638510.1:n.3579A>G
ENST00000639431.1:c.265+147331A>G	ENSP00000491057.1:n.265+147331A>G
ENST00000640061.1:n.128+1358A>G
ENST00000640407.1:c.2722A>G	ENSP00000491425.1:p.Thr908Ala
ENST00000405460.6:c.16312A>G	ENSP00000384582.2:p.Thr5438Ala
ENST00000425867.2:c.3295A>G	ENSP00000392618.2:p.Thr1099Ala
NM_032119.3:c.16312A>G	NP_115495.3:p.Thr5438Ala
NR_003149.1:n.16325A>G
XM_011543675.1:c.16309A>G	XP_011541977.1:p.Thr5437Ala
XM_011543676.1:c.16231A>G	XP_011541978.1:p.Thr5411Ala
XM_011543677.1:c.13615A>G	XP_011541979.1:p.Thr4539Ala
NM_032119.4:c.16312A>G MANE Select	NP_115495.3:p.Thr5438Ala
XM_017009963.2:c.16333A>G	XP_016865452.1:p.Thr5445Ala
XM_017009964.2:c.16330A>G	XP_016865453.1:p.Thr5444Ala
XM_017009965.1:c.16330A>G	XP_016865454.1:p.Thr5444Ala
XM_017009966.2:c.16252A>G	XP_016865455.1:p.Thr5418Ala
XM_017009967.1:c.16237A>G	XP_016865456.1:p.Thr5413Ala
XM_017009968.2:c.16153A>G	XP_016865457.1:p.Thr5385Ala
XM_017009969.2:c.16333A>G	XP_016865458.1:p.Thr5445Ala
XM_017009972.1:c.9451A>G	XP_016865461.1:p.Thr3151Ala
XM_017009973.1:c.9430A>G	XP_016865462.1:p.Thr3144Ala
NR_003149.2:n.16328A>G