Canonical Allele Identifier: CA360397514

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012457A>C (hg19) ; chr5:g.90716640A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716640A>C , CM000667.2:g.90716640A>C	GRCh38
NC_000005.9:g.90012457A>C , CM000667.1:g.90012457A>C	GRCh37
NC_000005.8:g.90048213A>C	NCBI36
NG_007083.1:g.162841A>C
NG_007083.2:g.192297A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9358A>C MANE Select	ENSP00000384582.2:p.Ile3120Leu
ENST00000639431.1:c.265+40431A>C	ENSP00000491057.1:n.265+40431A>C
ENST00000639473.1:n.4817A>C
ENST00000640012.1:c.3165A>C
ENST00000640374.1:n.2502A>C
ENST00000640779.1:c.4087A>C
ENST00000405460.6:c.9358A>C	ENSP00000384582.2:p.Ile3120Leu
ENST00000509621.1:c.2055A>C
NM_032119.3:c.9358A>C	NP_115495.3:p.Ile3120Leu
NR_003149.1:n.9371A>C
XM_011543675.1:c.9355A>C	XP_011541977.1:p.Ile3119Leu
XM_011543676.1:c.9277A>C	XP_011541978.1:p.Ile3093Leu
XM_011543677.1:c.6661A>C	XP_011541979.1:p.Ile2221Leu
XM_011543678.1:c.9358A>C	XP_011541980.1:p.Ile3120Leu
XM_011543679.1:c.9358A>C	XP_011541981.1:p.Ile3120Leu
XR_948560.1:n.272-831T>G
NM_032119.4:c.9358A>C MANE Select	NP_115495.3:p.Ile3120Leu
XM_017009963.2:c.9379A>C	XP_016865452.1:p.Ile3127Leu
XM_017009964.2:c.9376A>C	XP_016865453.1:p.Ile3126Leu
XM_017009965.1:c.9376A>C	XP_016865454.1:p.Ile3126Leu
XM_017009966.2:c.9298A>C	XP_016865455.1:p.Ile3100Leu
XM_017009967.1:c.9283A>C	XP_016865456.1:p.Ile3095Leu
XM_017009968.2:c.9379A>C	XP_016865457.1:p.Ile3127Leu
XM_017009969.2:c.9379A>C	XP_016865458.1:p.Ile3127Leu
XM_017009970.2:c.9379A>C	XP_016865459.1:p.Ile3127Leu
XM_017009971.2:c.9379A>C	XP_016865460.1:p.Ile3127Leu
XM_017009972.1:c.2497A>C	XP_016865461.1:p.Ile833Leu
XM_017009973.1:c.2476A>C	XP_016865462.1:p.Ile826Leu
XM_017009974.2:c.9379A>C	XP_016865463.1:p.Ile3127Leu
XR_001742802.1:n.2523-831T>G
NR_003149.2:n.9374A>C