Canonical Allele Identifier: CA3338424

Gene: ADGRV1

Linked Data

• dbSNP Id: rs761713406
• ExAC: 5:89913655 C / T
• gnomAD v2: 5-89913655-C-T
• gnomAD v4: 5-90617838-C-T
• MyVariant Identifiers: chr5:g.89913655C>T (hg19) ; chr5:g.90617838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617838C>T , CM000667.2:g.90617838C>T	GRCh38
NC_000005.9:g.89913655C>T , CM000667.1:g.89913655C>T	GRCh37
NC_000005.8:g.89949411C>T	NCBI36
NG_007083.1:g.64039C>T
NG_007083.2:g.93495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.242C>T MANE Select	ENSP00000384582.2:p.Thr81Ile
ENST00000638316.1:n.452C>T
ENST00000638638.1:n.649C>T
ENST00000640109.1:n.338C>T
ENST00000640281.1:n.301C>T
ENST00000405460.6:c.242C>T	ENSP00000384582.2:p.Thr81Ile
ENST00000508842.5:c.254C>T	ENSP00000425936.1:p.Thr85Ile
NM_032119.3:c.242C>T	NP_115495.3:p.Thr81Ile
NR_003149.1:n.338C>T
XM_011543675.1:c.242C>T	XP_011541977.1:p.Thr81Ile
XM_011543676.1:c.242C>T	XP_011541978.1:p.Thr81Ile
XM_011543678.1:c.242C>T	XP_011541980.1:p.Thr81Ile
XM_011543679.1:c.242C>T	XP_011541981.1:p.Thr81Ile
NM_032119.4:c.242C>T MANE Select	NP_115495.3:p.Thr81Ile
XM_017009963.2:c.242C>T	XP_016865452.1:p.Thr81Ile
XM_017009964.2:c.242C>T	XP_016865453.1:p.Thr81Ile
XM_017009965.1:c.239C>T	XP_016865454.1:p.Thr80Ile
XM_017009966.2:c.242C>T	XP_016865455.1:p.Thr81Ile
XM_017009967.1:c.242C>T	XP_016865456.1:p.Thr81Ile
XM_017009968.2:c.242C>T	XP_016865457.1:p.Thr81Ile
XM_017009969.2:c.242C>T	XP_016865458.1:p.Thr81Ile
XM_017009970.2:c.242C>T	XP_016865459.1:p.Thr81Ile
XM_017009971.2:c.242C>T	XP_016865460.1:p.Thr81Ile
XM_017009974.2:c.242C>T	XP_016865463.1:p.Thr81Ile
NR_003149.2:n.341C>T