Canonical Allele Identifier: CA3342113

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1005940
• ClinVar RCV Id: RCV001302894
• dbSNP Id: rs745477465
• ExAC: 5:90119358 C / T
• gnomAD v2: 5-90119358-C-T
• gnomAD v3: 5-90823541-C-T
• gnomAD v4: 5-90823541-C-T
• MyVariant Identifiers: chr5:g.90119358C>T (hg19) ; chr5:g.90823541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823541C>T , CM000667.2:g.90823541C>T	GRCh38
NC_000005.9:g.90119358C>T , CM000667.1:g.90119358C>T	GRCh37
NC_000005.8:g.90155114C>T	NCBI36
NG_007083.1:g.269742C>T
NG_007083.2:g.299198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16313C>T MANE Select	ENSP00000384582.2:p.Thr5438Ile
ENST00000425867.3:c.5267C>T	ENSP00000392618.3:p.Thr1756Ile
ENST00000638510.1:n.3580C>T
ENST00000639431.1:c.265+147332C>T	ENSP00000491057.1:n.265+147332C>T
ENST00000640061.1:n.128+1359C>T
ENST00000640407.1:c.2723C>T	ENSP00000491425.1:p.Thr908Ile
ENST00000405460.6:c.16313C>T	ENSP00000384582.2:p.Thr5438Ile
ENST00000425867.2:c.3296C>T	ENSP00000392618.2:p.Thr1099Ile
NM_032119.3:c.16313C>T	NP_115495.3:p.Thr5438Ile
NR_003149.1:n.16326C>T
XM_011543675.1:c.16310C>T	XP_011541977.1:p.Thr5437Ile
XM_011543676.1:c.16232C>T	XP_011541978.1:p.Thr5411Ile
XM_011543677.1:c.13616C>T	XP_011541979.1:p.Thr4539Ile
NM_032119.4:c.16313C>T MANE Select	NP_115495.3:p.Thr5438Ile
XM_017009963.2:c.16334C>T	XP_016865452.1:p.Thr5445Ile
XM_017009964.2:c.16331C>T	XP_016865453.1:p.Thr5444Ile
XM_017009965.1:c.16331C>T	XP_016865454.1:p.Thr5444Ile
XM_017009966.2:c.16253C>T	XP_016865455.1:p.Thr5418Ile
XM_017009967.1:c.16238C>T	XP_016865456.1:p.Thr5413Ile
XM_017009968.2:c.16154C>T	XP_016865457.1:p.Thr5385Ile
XM_017009969.2:c.16334C>T	XP_016865458.1:p.Thr5445Ile
XM_017009972.1:c.9452C>T	XP_016865461.1:p.Thr3151Ile
XM_017009973.1:c.9431C>T	XP_016865462.1:p.Thr3144Ile
NR_003149.2:n.16329C>T