Canonical Allele Identifier: CA360371637

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1491523
• ClinVar RCV Id: RCV001988701
• dbSNP Id: rs1644038193
• gnomAD v3: 5-90692729-A-T
• gnomAD v4: 5-90692729-A-T
• MyVariant Identifiers: chr5:g.89988546A>T (hg19) ; chr5:g.90692729A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692729A>T , CM000667.2:g.90692729A>T	GRCh38
NC_000005.9:g.89988546A>T , CM000667.1:g.89988546A>T	GRCh37
NC_000005.8:g.90024302A>T	NCBI36
NG_007083.1:g.138930A>T
NG_007083.2:g.168386A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7076A>T MANE Select	ENSP00000384582.2:p.Tyr2359Phe
ENST00000639431.1:c.265+16520A>T	ENSP00000491057.1:n.265+16520A>T
ENST00000639473.1:n.2535A>T
ENST00000640012.1:c.883A>T
ENST00000640374.1:n.220A>T
ENST00000640403.1:c.4367A>T	ENSP00000492531.1:p.Tyr1456Phe
ENST00000640779.1:c.1805A>T
ENST00000405460.6:c.7076A>T	ENSP00000384582.2:p.Tyr2359Phe
NM_032119.3:c.7076A>T	NP_115495.3:p.Tyr2359Phe
NR_003149.1:n.7089A>T
XM_011543675.1:c.7073A>T	XP_011541977.1:p.Tyr2358Phe
XM_011543676.1:c.6995A>T	XP_011541978.1:p.Tyr2332Phe
XM_011543677.1:c.4379A>T	XP_011541979.1:p.Tyr1460Phe
XM_011543678.1:c.7076A>T	XP_011541980.1:p.Tyr2359Phe
XM_011543679.1:c.7076A>T	XP_011541981.1:p.Tyr2359Phe
NM_032119.4:c.7076A>T MANE Select	NP_115495.3:p.Tyr2359Phe
XM_017009963.2:c.7076A>T	XP_016865452.1:p.Tyr2359Phe
XM_017009964.2:c.7073A>T	XP_016865453.1:p.Tyr2358Phe
XM_017009965.1:c.7073A>T	XP_016865454.1:p.Tyr2358Phe
XM_017009966.2:c.6995A>T	XP_016865455.1:p.Tyr2332Phe
XM_017009967.1:c.6980A>T	XP_016865456.1:p.Tyr2327Phe
XM_017009968.2:c.7076A>T	XP_016865457.1:p.Tyr2359Phe
XM_017009969.2:c.7076A>T	XP_016865458.1:p.Tyr2359Phe
XM_017009970.2:c.7076A>T	XP_016865459.1:p.Tyr2359Phe
XM_017009971.2:c.7076A>T	XP_016865460.1:p.Tyr2359Phe
XM_017009972.1:c.194A>T	XP_016865461.1:p.Tyr65Phe
XM_017009973.1:c.194A>T	XP_016865462.1:p.Tyr65Phe
XM_017009974.2:c.7076A>T	XP_016865463.1:p.Tyr2359Phe
NR_003149.2:n.7092A>T