Canonical Allele Identifier: CA360396340

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712387-C-T
• MyVariant Identifiers: chr5:g.90008204C>T (hg19) ; chr5:g.90712387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712387C>T , CM000667.2:g.90712387C>T	GRCh38
NC_000005.9:g.90008204C>T , CM000667.1:g.90008204C>T	GRCh37
NC_000005.8:g.90043960C>T	NCBI36
NG_007083.1:g.158588C>T
NG_007083.2:g.188044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9143C>T MANE Select	ENSP00000384582.2:p.Thr3048Ile
ENST00000639431.1:c.265+36178C>T	ENSP00000491057.1:n.265+36178C>T
ENST00000639473.1:n.4602C>T
ENST00000640012.1:c.2950C>T
ENST00000640374.1:n.2287C>T
ENST00000640779.1:c.3872C>T
ENST00000405460.6:c.9143C>T	ENSP00000384582.2:p.Thr3048Ile
ENST00000509621.1:c.1840C>T
NM_032119.3:c.9143C>T	NP_115495.3:p.Thr3048Ile
NR_003149.1:n.9156C>T
XM_011543675.1:c.9140C>T	XP_011541977.1:p.Thr3047Ile
XM_011543676.1:c.9062C>T	XP_011541978.1:p.Thr3021Ile
XM_011543677.1:c.6446C>T	XP_011541979.1:p.Thr2149Ile
XM_011543678.1:c.9143C>T	XP_011541980.1:p.Thr3048Ile
XM_011543679.1:c.9143C>T	XP_011541981.1:p.Thr3048Ile
XR_948560.1:n.459G>A
NM_032119.4:c.9143C>T MANE Select	NP_115495.3:p.Thr3048Ile
XM_017009963.2:c.9164C>T	XP_016865452.1:p.Thr3055Ile
XM_017009964.2:c.9161C>T	XP_016865453.1:p.Thr3054Ile
XM_017009965.1:c.9161C>T	XP_016865454.1:p.Thr3054Ile
XM_017009966.2:c.9083C>T	XP_016865455.1:p.Thr3028Ile
XM_017009967.1:c.9068C>T	XP_016865456.1:p.Thr3023Ile
XM_017009968.2:c.9164C>T	XP_016865457.1:p.Thr3055Ile
XM_017009969.2:c.9164C>T	XP_016865458.1:p.Thr3055Ile
XM_017009970.2:c.9164C>T	XP_016865459.1:p.Thr3055Ile
XM_017009971.2:c.9164C>T	XP_016865460.1:p.Thr3055Ile
XM_017009972.1:c.2282C>T	XP_016865461.1:p.Thr761Ile
XM_017009973.1:c.2261C>T	XP_016865462.1:p.Thr754Ile
XM_017009974.2:c.9164C>T	XP_016865463.1:p.Thr3055Ile
NR_003149.2:n.9159C>T