Canonical Allele Identifier: CA360403204

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90725570-G-A
• MyVariant Identifiers: chr5:g.90021387G>A (hg19) ; chr5:g.90725570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725570G>A , CM000667.2:g.90725570G>A	GRCh38
NC_000005.9:g.90021387G>A , CM000667.1:g.90021387G>A	GRCh37
NC_000005.8:g.90057143G>A	NCBI36
NG_007083.1:g.171771G>A
NG_007083.2:g.201227G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.10075G>A MANE Select	ENSP00000384582.2:p.Glu3359Lys
ENST00000639431.1:c.265+49361G>A	ENSP00000491057.1:n.265+49361G>A
ENST00000640374.1:n.3219G>A
ENST00000640464.1:n.494G>A
ENST00000405460.6:c.10075G>A	ENSP00000384582.2:p.Glu3359Lys
ENST00000509621.1:c.2772G>A
NM_032119.3:c.10075G>A	NP_115495.3:p.Glu3359Lys
NR_003149.1:n.10088G>A
XM_011543675.1:c.10072G>A	XP_011541977.1:p.Glu3358Lys
XM_011543676.1:c.9994G>A	XP_011541978.1:p.Glu3332Lys
XM_011543677.1:c.7378G>A	XP_011541979.1:p.Glu2460Lys
XM_011543678.1:c.10075G>A	XP_011541980.1:p.Glu3359Lys
XM_011543679.1:c.10075G>A	XP_011541981.1:p.Glu3359Lys
XR_948560.1:n.272-9761C>T
NM_032119.4:c.10075G>A MANE Select	NP_115495.3:p.Glu3359Lys
XM_017009963.2:c.10096G>A	XP_016865452.1:p.Glu3366Lys
XM_017009964.2:c.10093G>A	XP_016865453.1:p.Glu3365Lys
XM_017009965.1:c.10093G>A	XP_016865454.1:p.Glu3365Lys
XM_017009966.2:c.10015G>A	XP_016865455.1:p.Glu3339Lys
XM_017009967.1:c.10000G>A	XP_016865456.1:p.Glu3334Lys
XM_017009968.2:c.10096G>A	XP_016865457.1:p.Glu3366Lys
XM_017009969.2:c.10096G>A	XP_016865458.1:p.Glu3366Lys
XM_017009970.2:c.10096G>A	XP_016865459.1:p.Glu3366Lys
XM_017009971.2:c.10096G>A	XP_016865460.1:p.Glu3366Lys
XM_017009972.1:c.3214G>A	XP_016865461.1:p.Glu1072Lys
XM_017009973.1:c.3193G>A	XP_016865462.1:p.Glu1065Lys
XM_017009974.2:c.10096G>A	XP_016865463.1:p.Glu3366Lys
XR_001742802.1:n.2523-9761C>T
NR_003149.2:n.10091G>A