Canonical Allele Identifier: CA360377493

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059168T>A (hg19) ; chr5:g.90763351T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763351T>A , CM000667.2:g.90763351T>A	GRCh38
NC_000005.9:g.90059168T>A , CM000667.1:g.90059168T>A	GRCh37
NC_000005.8:g.90094924T>A	NCBI36
NG_007083.1:g.209552T>A
NG_007083.2:g.239008T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12167T>A MANE Select	ENSP00000384582.2:p.Val4056Glu
ENST00000425867.3:c.1121T>A	ENSP00000392618.3:p.Val374Glu
ENST00000639431.1:c.265+87142T>A	ENSP00000491057.1:n.265+87142T>A
ENST00000640464.1:n.2586T>A
ENST00000640729.1:n.744T>A
ENST00000405460.6:c.12167T>A	ENSP00000384582.2:p.Val4056Glu
NM_032119.3:c.12167T>A	NP_115495.3:p.Val4056Glu
NR_003149.1:n.12180T>A
XM_011543675.1:c.12164T>A	XP_011541977.1:p.Val4055Glu
XM_011543676.1:c.12086T>A	XP_011541978.1:p.Val4029Glu
XM_011543677.1:c.9470T>A	XP_011541979.1:p.Val3157Glu
XM_011543678.1:c.12167T>A	XP_011541980.1:p.Val4056Glu
NM_032119.4:c.12167T>A MANE Select	NP_115495.3:p.Val4056Glu
XM_017009963.2:c.12188T>A	XP_016865452.1:p.Val4063Glu
XM_017009964.2:c.12185T>A	XP_016865453.1:p.Val4062Glu
XM_017009965.1:c.12185T>A	XP_016865454.1:p.Val4062Glu
XM_017009966.2:c.12107T>A	XP_016865455.1:p.Val4036Glu
XM_017009967.1:c.12092T>A	XP_016865456.1:p.Val4031Glu
XM_017009968.2:c.12188T>A	XP_016865457.1:p.Val4063Glu
XM_017009969.2:c.12188T>A	XP_016865458.1:p.Val4063Glu
XM_017009970.2:c.12188T>A	XP_016865459.1:p.Val4063Glu
XM_017009971.2:c.12188T>A	XP_016865460.1:p.Val4063Glu
XM_017009972.1:c.5306T>A	XP_016865461.1:p.Val1769Glu
XM_017009973.1:c.5285T>A	XP_016865462.1:p.Val1762Glu
NR_003149.2:n.12183T>A