Canonical Allele Identifier: CA360385241

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90617844-C-T
• MyVariant Identifiers: chr5:g.89913661C>T (hg19) ; chr5:g.90617844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617844C>T , CM000667.2:g.90617844C>T	GRCh38
NC_000005.9:g.89913661C>T , CM000667.1:g.89913661C>T	GRCh37
NC_000005.8:g.89949417C>T	NCBI36
NG_007083.1:g.64045C>T
NG_007083.2:g.93501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.248C>T MANE Select	ENSP00000384582.2:p.Ala83Val
ENST00000638316.1:n.458C>T
ENST00000638638.1:n.655C>T
ENST00000640109.1:n.344C>T
ENST00000640281.1:n.307C>T
ENST00000405460.6:c.248C>T	ENSP00000384582.2:p.Ala83Val
ENST00000508842.5:c.260C>T	ENSP00000425936.1:p.Ala87Val
NM_032119.3:c.248C>T	NP_115495.3:p.Ala83Val
NR_003149.1:n.344C>T
XM_011543675.1:c.248C>T	XP_011541977.1:p.Ala83Val
XM_011543676.1:c.248C>T	XP_011541978.1:p.Ala83Val
XM_011543678.1:c.248C>T	XP_011541980.1:p.Ala83Val
XM_011543679.1:c.248C>T	XP_011541981.1:p.Ala83Val
NM_032119.4:c.248C>T MANE Select	NP_115495.3:p.Ala83Val
XM_017009963.2:c.248C>T	XP_016865452.1:p.Ala83Val
XM_017009964.2:c.248C>T	XP_016865453.1:p.Ala83Val
XM_017009965.1:c.245C>T	XP_016865454.1:p.Ala82Val
XM_017009966.2:c.248C>T	XP_016865455.1:p.Ala83Val
XM_017009967.1:c.248C>T	XP_016865456.1:p.Ala83Val
XM_017009968.2:c.248C>T	XP_016865457.1:p.Ala83Val
XM_017009969.2:c.248C>T	XP_016865458.1:p.Ala83Val
XM_017009970.2:c.248C>T	XP_016865459.1:p.Ala83Val
XM_017009971.2:c.248C>T	XP_016865460.1:p.Ala83Val
XM_017009974.2:c.248C>T	XP_016865463.1:p.Ala83Val
NR_003149.2:n.347C>T