Canonical Allele Identifier: CA360396217

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712334-G-A
• MyVariant Identifiers: chr5:g.90008151G>A (hg19) ; chr5:g.90712334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712334G>A , CM000667.2:g.90712334G>A	GRCh38
NC_000005.9:g.90008151G>A , CM000667.1:g.90008151G>A	GRCh37
NC_000005.8:g.90043907G>A	NCBI36
NG_007083.1:g.158535G>A
NG_007083.2:g.187991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9090G>A MANE Select	ENSP00000384582.2:p.Met3030Ile
ENST00000639431.1:c.265+36125G>A	ENSP00000491057.1:n.265+36125G>A
ENST00000639473.1:n.4549G>A
ENST00000640012.1:c.2897G>A
ENST00000640374.1:n.2234G>A
ENST00000640779.1:c.3819G>A
ENST00000405460.6:c.9090G>A	ENSP00000384582.2:p.Met3030Ile
ENST00000509621.1:c.1787G>A
NM_032119.3:c.9090G>A	NP_115495.3:p.Met3030Ile
NR_003149.1:n.9103G>A
XM_011543675.1:c.9087G>A	XP_011541977.1:p.Met3029Ile
XM_011543676.1:c.9009G>A	XP_011541978.1:p.Met3003Ile
XM_011543677.1:c.6393G>A	XP_011541979.1:p.Met2131Ile
XM_011543678.1:c.9090G>A	XP_011541980.1:p.Met3030Ile
XM_011543679.1:c.9090G>A	XP_011541981.1:p.Met3030Ile
NM_032119.4:c.9090G>A MANE Select	NP_115495.3:p.Met3030Ile
XM_017009963.2:c.9111G>A	XP_016865452.1:p.Met3037Ile
XM_017009964.2:c.9108G>A	XP_016865453.1:p.Met3036Ile
XM_017009965.1:c.9108G>A	XP_016865454.1:p.Met3036Ile
XM_017009966.2:c.9030G>A	XP_016865455.1:p.Met3010Ile
XM_017009967.1:c.9015G>A	XP_016865456.1:p.Met3005Ile
XM_017009968.2:c.9111G>A	XP_016865457.1:p.Met3037Ile
XM_017009969.2:c.9111G>A	XP_016865458.1:p.Met3037Ile
XM_017009970.2:c.9111G>A	XP_016865459.1:p.Met3037Ile
XM_017009971.2:c.9111G>A	XP_016865460.1:p.Met3037Ile
XM_017009972.1:c.2229G>A	XP_016865461.1:p.Met743Ile
XM_017009973.1:c.2208G>A	XP_016865462.1:p.Met736Ile
XM_017009974.2:c.9111G>A	XP_016865463.1:p.Met3037Ile
NR_003149.2:n.9106G>A