Canonical Allele Identifier: CA360366666

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1718745
• ClinVar RCV Id: RCV002301653
• MyVariant Identifiers: chr5:g.89923251A>T (hg19) ; chr5:g.90627434A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627434A>T , CM000667.2:g.90627434A>T	GRCh38
NC_000005.9:g.89923251A>T , CM000667.1:g.89923251A>T	GRCh37
NC_000005.8:g.89959007A>T	NCBI36
NG_007083.1:g.73635A>T
NG_007083.2:g.103091A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.896A>T MANE Select	ENSP00000384582.2:p.Tyr299Phe
ENST00000640083.1:n.601A>T
ENST00000640109.1:n.992A>T
ENST00000640281.1:n.955A>T
ENST00000405460.6:c.896A>T	ENSP00000384582.2:p.Tyr299Phe
NM_032119.3:c.896A>T	NP_115495.3:p.Tyr299Phe
NR_003149.1:n.992A>T
XM_011543675.1:c.896A>T	XP_011541977.1:p.Tyr299Phe
XM_011543676.1:c.896A>T	XP_011541978.1:p.Tyr299Phe
XM_011543678.1:c.896A>T	XP_011541980.1:p.Tyr299Phe
XM_011543679.1:c.896A>T	XP_011541981.1:p.Tyr299Phe
NM_032119.4:c.896A>T MANE Select	NP_115495.3:p.Tyr299Phe
XM_017009963.2:c.896A>T	XP_016865452.1:p.Tyr299Phe
XM_017009964.2:c.896A>T	XP_016865453.1:p.Tyr299Phe
XM_017009965.1:c.893A>T	XP_016865454.1:p.Tyr298Phe
XM_017009966.2:c.896A>T	XP_016865455.1:p.Tyr299Phe
XM_017009967.1:c.800A>T	XP_016865456.1:p.Tyr267Phe
XM_017009968.2:c.896A>T	XP_016865457.1:p.Tyr299Phe
XM_017009969.2:c.896A>T	XP_016865458.1:p.Tyr299Phe
XM_017009970.2:c.896A>T	XP_016865459.1:p.Tyr299Phe
XM_017009971.2:c.896A>T	XP_016865460.1:p.Tyr299Phe
XM_017009974.2:c.896A>T	XP_016865463.1:p.Tyr299Phe
NR_003149.2:n.995A>T