Canonical Allele Identifier: CA10576675

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 227397
• ClinVar RCV Id: RCV000216228 ; RCV001853410
• dbSNP Id: rs876657472
• gnomAD v2: 5-90119303-C-A
• gnomAD v3: 5-90823486-C-A
• gnomAD v4: 5-90823486-C-A
• MyVariant Identifiers: chr5:g.90119303C>A (hg19) ; chr5:g.90823486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823486C>A , CM000667.2:g.90823486C>A	GRCh38
NC_000005.9:g.90119303C>A , CM000667.1:g.90119303C>A	GRCh37
NC_000005.8:g.90155059C>A	NCBI36
NG_007083.1:g.269687C>A
NG_007083.2:g.299143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16258C>A MANE Select	ENSP00000384582.2:p.Gln5420Lys
ENST00000425867.3:c.5212C>A	ENSP00000392618.3:p.Gln1738Lys
ENST00000638510.1:n.3525C>A
ENST00000639431.1:c.265+147277C>A	ENSP00000491057.1:n.265+147277C>A
ENST00000640061.1:n.128+1304C>A
ENST00000640407.1:c.2668C>A	ENSP00000491425.1:p.Gln890Lys
ENST00000405460.6:c.16258C>A	ENSP00000384582.2:p.Gln5420Lys
ENST00000425867.2:c.3241C>A	ENSP00000392618.2:p.Gln1081Lys
NM_032119.3:c.16258C>A	NP_115495.3:p.Gln5420Lys
NR_003149.1:n.16271C>A
XM_011543675.1:c.16255C>A	XP_011541977.1:p.Gln5419Lys
XM_011543676.1:c.16177C>A	XP_011541978.1:p.Gln5393Lys
XM_011543677.1:c.13561C>A	XP_011541979.1:p.Gln4521Lys
NM_032119.4:c.16258C>A MANE Select	NP_115495.3:p.Gln5420Lys
XM_017009963.2:c.16279C>A	XP_016865452.1:p.Gln5427Lys
XM_017009964.2:c.16276C>A	XP_016865453.1:p.Gln5426Lys
XM_017009965.1:c.16276C>A	XP_016865454.1:p.Gln5426Lys
XM_017009966.2:c.16198C>A	XP_016865455.1:p.Gln5400Lys
XM_017009967.1:c.16183C>A	XP_016865456.1:p.Gln5395Lys
XM_017009968.2:c.16099C>A	XP_016865457.1:p.Gln5367Lys
XM_017009969.2:c.16279C>A	XP_016865458.1:p.Gln5427Lys
XM_017009972.1:c.9397C>A	XP_016865461.1:p.Gln3133Lys
XM_017009973.1:c.9376C>A	XP_016865462.1:p.Gln3126Lys
NR_003149.2:n.16274C>A