Canonical Allele Identifier: CA360408800

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041416A>C (hg19) ; chr5:g.90745599A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745599A>C , CM000667.2:g.90745599A>C	GRCh38
NC_000005.9:g.90041416A>C , CM000667.1:g.90041416A>C	GRCh37
NC_000005.8:g.90077172A>C	NCBI36
NG_007083.1:g.191800A>C
NG_007083.2:g.221256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10778A>C MANE Select	ENSP00000384582.2:p.Glu3593Ala
ENST00000639431.1:c.265+69390A>C	ENSP00000491057.1:n.265+69390A>C
ENST00000640374.1:n.3922A>C
ENST00000640464.1:n.1197A>C
ENST00000405460.6:c.10778A>C	ENSP00000384582.2:p.Glu3593Ala
ENST00000509621.1:c.3475A>C
NM_032119.3:c.10778A>C	NP_115495.3:p.Glu3593Ala
NR_003149.1:n.10791A>C
XM_011543675.1:c.10775A>C	XP_011541977.1:p.Glu3592Ala
XM_011543676.1:c.10697A>C	XP_011541978.1:p.Glu3566Ala
XM_011543677.1:c.8081A>C	XP_011541979.1:p.Glu2694Ala
XM_011543678.1:c.10778A>C	XP_011541980.1:p.Glu3593Ala
XM_011543679.1:c.10773A>C	XP_011541981.1:p.Ter3591Cys
NM_032119.4:c.10778A>C MANE Select	NP_115495.3:p.Glu3593Ala
XM_017009963.2:c.10799A>C	XP_016865452.1:p.Glu3600Ala
XM_017009964.2:c.10796A>C	XP_016865453.1:p.Glu3599Ala
XM_017009965.1:c.10796A>C	XP_016865454.1:p.Glu3599Ala
XM_017009966.2:c.10718A>C	XP_016865455.1:p.Glu3573Ala
XM_017009967.1:c.10703A>C	XP_016865456.1:p.Glu3568Ala
XM_017009968.2:c.10799A>C	XP_016865457.1:p.Glu3600Ala
XM_017009969.2:c.10799A>C	XP_016865458.1:p.Glu3600Ala
XM_017009970.2:c.10799A>C	XP_016865459.1:p.Glu3600Ala
XM_017009971.2:c.10799A>C	XP_016865460.1:p.Glu3600Ala
XM_017009972.1:c.3917A>C	XP_016865461.1:p.Glu1306Ala
XM_017009973.1:c.3896A>C	XP_016865462.1:p.Glu1299Ala
XM_017009974.2:c.10794A>C	XP_016865463.1:p.Ter3598Cys
NR_003149.2:n.10794A>C