Canonical Allele Identifier: CA360396262

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712352-T-G
• MyVariant Identifiers: chr5:g.90008169T>G (hg19) ; chr5:g.90712352T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712352T>G , CM000667.2:g.90712352T>G	GRCh38
NC_000005.9:g.90008169T>G , CM000667.1:g.90008169T>G	GRCh37
NC_000005.8:g.90043925T>G	NCBI36
NG_007083.1:g.158553T>G
NG_007083.2:g.188009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9108T>G MANE Select	ENSP00000384582.2:p.Ile3036Met
ENST00000639431.1:c.265+36143T>G	ENSP00000491057.1:n.265+36143T>G
ENST00000639473.1:n.4567T>G
ENST00000640012.1:c.2915T>G
ENST00000640374.1:n.2252T>G
ENST00000640779.1:c.3837T>G
ENST00000405460.6:c.9108T>G	ENSP00000384582.2:p.Ile3036Met
ENST00000509621.1:c.1805T>G
NM_032119.3:c.9108T>G	NP_115495.3:p.Ile3036Met
NR_003149.1:n.9121T>G
XM_011543675.1:c.9105T>G	XP_011541977.1:p.Ile3035Met
XM_011543676.1:c.9027T>G	XP_011541978.1:p.Ile3009Met
XM_011543677.1:c.6411T>G	XP_011541979.1:p.Ile2137Met
XM_011543678.1:c.9108T>G	XP_011541980.1:p.Ile3036Met
XM_011543679.1:c.9108T>G	XP_011541981.1:p.Ile3036Met
NM_032119.4:c.9108T>G MANE Select	NP_115495.3:p.Ile3036Met
XM_017009963.2:c.9129T>G	XP_016865452.1:p.Ile3043Met
XM_017009964.2:c.9126T>G	XP_016865453.1:p.Ile3042Met
XM_017009965.1:c.9126T>G	XP_016865454.1:p.Ile3042Met
XM_017009966.2:c.9048T>G	XP_016865455.1:p.Ile3016Met
XM_017009967.1:c.9033T>G	XP_016865456.1:p.Ile3011Met
XM_017009968.2:c.9129T>G	XP_016865457.1:p.Ile3043Met
XM_017009969.2:c.9129T>G	XP_016865458.1:p.Ile3043Met
XM_017009970.2:c.9129T>G	XP_016865459.1:p.Ile3043Met
XM_017009971.2:c.9129T>G	XP_016865460.1:p.Ile3043Met
XM_017009972.1:c.2247T>G	XP_016865461.1:p.Ile749Met
XM_017009973.1:c.2226T>G	XP_016865462.1:p.Ile742Met
XM_017009974.2:c.9129T>G	XP_016865463.1:p.Ile3043Met
NR_003149.2:n.9124T>G