Canonical Allele Identifier: CA360408856

Gene: ADGRV1

Linked Data

• dbSNP Id: rs754687318
• gnomAD v2: 5-90041430-C-A
• gnomAD v4: 5-90745613-C-A
• MyVariant Identifiers: chr5:g.90041430C>A (hg19) ; chr5:g.90745613C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745613C>A , CM000667.2:g.90745613C>A	GRCh38
NC_000005.9:g.90041430C>A , CM000667.1:g.90041430C>A	GRCh37
NC_000005.8:g.90077186C>A	NCBI36
NG_007083.1:g.191814C>A
NG_007083.2:g.221270C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10792C>A MANE Select	ENSP00000384582.2:p.Pro3598Thr
ENST00000639431.1:c.265+69404C>A	ENSP00000491057.1:n.265+69404C>A
ENST00000640374.1:n.3936C>A
ENST00000640464.1:n.1211C>A
ENST00000405460.6:c.10792C>A	ENSP00000384582.2:p.Pro3598Thr
ENST00000509621.1:c.3489C>A
NM_032119.3:c.10792C>A	NP_115495.3:p.Pro3598Thr
NR_003149.1:n.10805C>A
XM_011543675.1:c.10789C>A	XP_011541977.1:p.Pro3597Thr
XM_011543676.1:c.10711C>A	XP_011541978.1:p.Pro3571Thr
XM_011543677.1:c.8095C>A	XP_011541979.1:p.Pro2699Thr
XM_011543678.1:c.10792C>A	XP_011541980.1:p.Pro3598Thr
XM_011543679.1:c.*14C>A	XP_011541981.1:n.*14C>A
NM_032119.4:c.10792C>A MANE Select	NP_115495.3:p.Pro3598Thr
XM_017009963.2:c.10813C>A	XP_016865452.1:p.Pro3605Thr
XM_017009964.2:c.10810C>A	XP_016865453.1:p.Pro3604Thr
XM_017009965.1:c.10810C>A	XP_016865454.1:p.Pro3604Thr
XM_017009966.2:c.10732C>A	XP_016865455.1:p.Pro3578Thr
XM_017009967.1:c.10717C>A	XP_016865456.1:p.Pro3573Thr
XM_017009968.2:c.10813C>A	XP_016865457.1:p.Pro3605Thr
XM_017009969.2:c.10813C>A	XP_016865458.1:p.Pro3605Thr
XM_017009970.2:c.10813C>A	XP_016865459.1:p.Pro3605Thr
XM_017009971.2:c.10813C>A	XP_016865460.1:p.Pro3605Thr
XM_017009972.1:c.3931C>A	XP_016865461.1:p.Pro1311Thr
XM_017009973.1:c.3910C>A	XP_016865462.1:p.Pro1304Thr
XM_017009974.2:c.*14C>A	XP_016865463.1:n.*14C>A
NR_003149.2:n.10808C>A