Canonical Allele Identifier: CA122816179

Gene: ADGRV1

Linked Data

• dbSNP Id: rs965730524
• gnomAD v2: 5-90041560-C-T
• gnomAD v3: 5-90745743-C-T
• gnomAD v4: 5-90745743-C-T
• MyVariant Identifiers: chr5:g.90041560C>T (hg19) ; chr5:g.90745743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745743C>T , CM000667.2:g.90745743C>T	GRCh38
NC_000005.9:g.90041560C>T , CM000667.1:g.90041560C>T	GRCh37
NC_000005.8:g.90077316C>T	NCBI36
NG_007083.1:g.191944C>T
NG_007083.2:g.221400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10922C>T MANE Select	ENSP00000384582.2:p.Thr3641Ile
ENST00000425867.3:c.53C>T	ENSP00000392618.3:p.Thr18Ile
ENST00000639431.1:c.265+69534C>T	ENSP00000491057.1:n.265+69534C>T
ENST00000640374.1:n.4066C>T
ENST00000640464.1:n.1341C>T
ENST00000405460.6:c.10922C>T	ENSP00000384582.2:p.Thr3641Ile
ENST00000509621.1:c.3619C>T
NM_032119.3:c.10922C>T	NP_115495.3:p.Thr3641Ile
NR_003149.1:n.10935C>T
XM_011543675.1:c.10919C>T	XP_011541977.1:p.Thr3640Ile
XM_011543676.1:c.10841C>T	XP_011541978.1:p.Thr3614Ile
XM_011543677.1:c.8225C>T	XP_011541979.1:p.Thr2742Ile
XM_011543678.1:c.10922C>T	XP_011541980.1:p.Thr3641Ile
NM_032119.4:c.10922C>T MANE Select	NP_115495.3:p.Thr3641Ile
XM_017009963.2:c.10943C>T	XP_016865452.1:p.Thr3648Ile
XM_017009964.2:c.10940C>T	XP_016865453.1:p.Thr3647Ile
XM_017009965.1:c.10940C>T	XP_016865454.1:p.Thr3647Ile
XM_017009966.2:c.10862C>T	XP_016865455.1:p.Thr3621Ile
XM_017009967.1:c.10847C>T	XP_016865456.1:p.Thr3616Ile
XM_017009968.2:c.10943C>T	XP_016865457.1:p.Thr3648Ile
XM_017009969.2:c.10943C>T	XP_016865458.1:p.Thr3648Ile
XM_017009970.2:c.10943C>T	XP_016865459.1:p.Thr3648Ile
XM_017009971.2:c.10943C>T	XP_016865460.1:p.Thr3648Ile
XM_017009972.1:c.4061C>T	XP_016865461.1:p.Thr1354Ile
XM_017009973.1:c.4040C>T	XP_016865462.1:p.Thr1347Ile
NR_003149.2:n.10938C>T