Canonical Allele Identifier: CA360409006

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745649-C-A
• MyVariant Identifiers: chr5:g.90041466C>A (hg19) ; chr5:g.90745649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745649C>A , CM000667.2:g.90745649C>A	GRCh38
NC_000005.9:g.90041466C>A , CM000667.1:g.90041466C>A	GRCh37
NC_000005.8:g.90077222C>A	NCBI36
NG_007083.1:g.191850C>A
NG_007083.2:g.221306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10828C>A MANE Select	ENSP00000384582.2:p.Leu3610Ile
ENST00000639431.1:c.265+69440C>A	ENSP00000491057.1:n.265+69440C>A
ENST00000640374.1:n.3972C>A
ENST00000640464.1:n.1247C>A
ENST00000405460.6:c.10828C>A	ENSP00000384582.2:p.Leu3610Ile
ENST00000509621.1:c.3525C>A
NM_032119.3:c.10828C>A	NP_115495.3:p.Leu3610Ile
NR_003149.1:n.10841C>A
XM_011543675.1:c.10825C>A	XP_011541977.1:p.Leu3609Ile
XM_011543676.1:c.10747C>A	XP_011541978.1:p.Leu3583Ile
XM_011543677.1:c.8131C>A	XP_011541979.1:p.Leu2711Ile
XM_011543678.1:c.10828C>A	XP_011541980.1:p.Leu3610Ile
XM_011543679.1:c.*50C>A	XP_011541981.1:n.*50C>A
NM_032119.4:c.10828C>A MANE Select	NP_115495.3:p.Leu3610Ile
XM_017009963.2:c.10849C>A	XP_016865452.1:p.Leu3617Ile
XM_017009964.2:c.10846C>A	XP_016865453.1:p.Leu3616Ile
XM_017009965.1:c.10846C>A	XP_016865454.1:p.Leu3616Ile
XM_017009966.2:c.10768C>A	XP_016865455.1:p.Leu3590Ile
XM_017009967.1:c.10753C>A	XP_016865456.1:p.Leu3585Ile
XM_017009968.2:c.10849C>A	XP_016865457.1:p.Leu3617Ile
XM_017009969.2:c.10849C>A	XP_016865458.1:p.Leu3617Ile
XM_017009970.2:c.10849C>A	XP_016865459.1:p.Leu3617Ile
XM_017009971.2:c.10849C>A	XP_016865460.1:p.Leu3617Ile
XM_017009972.1:c.3967C>A	XP_016865461.1:p.Leu1323Ile
XM_017009973.1:c.3946C>A	XP_016865462.1:p.Leu1316Ile
XM_017009974.2:c.*50C>A	XP_016865463.1:n.*50C>A
NR_003149.2:n.10844C>A