Canonical Allele Identifier: CA360377274

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763332-G-T
• MyVariant Identifiers: chr5:g.90059149G>T (hg19) ; chr5:g.90763332G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763332G>T , CM000667.2:g.90763332G>T	GRCh38
NC_000005.9:g.90059149G>T , CM000667.1:g.90059149G>T	GRCh37
NC_000005.8:g.90094905G>T	NCBI36
NG_007083.1:g.209533G>T
NG_007083.2:g.238989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12148G>T MANE Select	ENSP00000384582.2:p.Asp4050Tyr
ENST00000425867.3:c.1102G>T	ENSP00000392618.3:p.Asp368Tyr
ENST00000639431.1:c.265+87123G>T	ENSP00000491057.1:n.265+87123G>T
ENST00000640464.1:n.2567G>T
ENST00000640729.1:n.725G>T
ENST00000405460.6:c.12148G>T	ENSP00000384582.2:p.Asp4050Tyr
NM_032119.3:c.12148G>T	NP_115495.3:p.Asp4050Tyr
NR_003149.1:n.12161G>T
XM_011543675.1:c.12145G>T	XP_011541977.1:p.Asp4049Tyr
XM_011543676.1:c.12067G>T	XP_011541978.1:p.Asp4023Tyr
XM_011543677.1:c.9451G>T	XP_011541979.1:p.Asp3151Tyr
XM_011543678.1:c.12148G>T	XP_011541980.1:p.Asp4050Tyr
NM_032119.4:c.12148G>T MANE Select	NP_115495.3:p.Asp4050Tyr
XM_017009963.2:c.12169G>T	XP_016865452.1:p.Asp4057Tyr
XM_017009964.2:c.12166G>T	XP_016865453.1:p.Asp4056Tyr
XM_017009965.1:c.12166G>T	XP_016865454.1:p.Asp4056Tyr
XM_017009966.2:c.12088G>T	XP_016865455.1:p.Asp4030Tyr
XM_017009967.1:c.12073G>T	XP_016865456.1:p.Asp4025Tyr
XM_017009968.2:c.12169G>T	XP_016865457.1:p.Asp4057Tyr
XM_017009969.2:c.12169G>T	XP_016865458.1:p.Asp4057Tyr
XM_017009970.2:c.12169G>T	XP_016865459.1:p.Asp4057Tyr
XM_017009971.2:c.12169G>T	XP_016865460.1:p.Asp4057Tyr
XM_017009972.1:c.5287G>T	XP_016865461.1:p.Asp1763Tyr
XM_017009973.1:c.5266G>T	XP_016865462.1:p.Asp1756Tyr
NR_003149.2:n.12164G>T