Canonical Allele Identifier: CA3342095

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1017249
• ClinVar RCV Id: RCV001316375
• dbSNP Id: rs375876245
• ExAC: 5:90119294 G / A
• gnomAD v2: 5-90119294-G-A
• gnomAD v3: 5-90823477-G-A
• gnomAD v4: 5-90823477-G-A
• MyVariant Identifiers: chr5:g.90119294G>A (hg19) ; chr5:g.90823477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823477G>A , CM000667.2:g.90823477G>A	GRCh38
NC_000005.9:g.90119294G>A , CM000667.1:g.90119294G>A	GRCh37
NC_000005.8:g.90155050G>A	NCBI36
NG_007083.1:g.269678G>A
NG_007083.2:g.299134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16249G>A MANE Select	ENSP00000384582.2:p.Val5417Ile
ENST00000425867.3:c.5203G>A	ENSP00000392618.3:p.Val1735Ile
ENST00000638510.1:n.3516G>A
ENST00000639431.1:c.265+147268G>A	ENSP00000491057.1:n.265+147268G>A
ENST00000640061.1:n.128+1295G>A
ENST00000640407.1:c.2659G>A	ENSP00000491425.1:p.Val887Ile
ENST00000405460.6:c.16249G>A	ENSP00000384582.2:p.Val5417Ile
ENST00000425867.2:c.3232G>A	ENSP00000392618.2:p.Val1078Ile
NM_032119.3:c.16249G>A	NP_115495.3:p.Val5417Ile
NR_003149.1:n.16262G>A
XM_011543675.1:c.16246G>A	XP_011541977.1:p.Val5416Ile
XM_011543676.1:c.16168G>A	XP_011541978.1:p.Val5390Ile
XM_011543677.1:c.13552G>A	XP_011541979.1:p.Val4518Ile
NM_032119.4:c.16249G>A MANE Select	NP_115495.3:p.Val5417Ile
XM_017009963.2:c.16270G>A	XP_016865452.1:p.Val5424Ile
XM_017009964.2:c.16267G>A	XP_016865453.1:p.Val5423Ile
XM_017009965.1:c.16267G>A	XP_016865454.1:p.Val5423Ile
XM_017009966.2:c.16189G>A	XP_016865455.1:p.Val5397Ile
XM_017009967.1:c.16174G>A	XP_016865456.1:p.Val5392Ile
XM_017009968.2:c.16090G>A	XP_016865457.1:p.Val5364Ile
XM_017009969.2:c.16270G>A	XP_016865458.1:p.Val5424Ile
XM_017009972.1:c.9388G>A	XP_016865461.1:p.Val3130Ile
XM_017009973.1:c.9367G>A	XP_016865462.1:p.Val3123Ile
NR_003149.2:n.16265G>A