Canonical Allele Identifier: CA123027066

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.91102242T>C , CM000667.2:g.91102242T>C	GRCh38
NC_000005.9:g.90398059T>C , CM000667.1:g.90398059T>C	GRCh37
NC_000005.8:g.90433815T>C	NCBI36
NG_007083.1:g.548443T>C
NG_007083.2:g.577899T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18334T>C MANE Select	NP_115495.3:p.Phe6112Leu
ENST00000405460.9:c.18334T>C MANE Select	ENSP00000384582.2:p.Phe6112Leu
NM_032119.3:c.18334T>C	NP_115495.3:p.Phe6112Leu
NR_003149.1:n.18347T>C
NR_003149.2:n.18350T>C
ENST00000405460.6:c.18334T>C	ENSP00000384582.2:p.Phe6112Leu
ENST00000425867.2:c.5317T>C	ENSP00000392618.2:p.Phe1773Leu
ENST00000425867.3:c.7288T>C	ENSP00000392618.3:p.Phe2430Leu
ENST00000638510.1:n.5601T>C
ENST00000638990.1:c.1546T>C
ENST00000639212.1:n.254T>C
ENST00000639530.1:n.202T>C
ENST00000639821.1:c.418T>C	ENSP00000492216.1:p.Phe140Leu
ENST00000640256.1:n.202T>C
ENST00000640407.1:c.4783T>C	ENSP00000491425.1:n.4783T>C
ENST00000640815.1:c.418T>C	ENSP00000491767.1:p.Phe140Leu
XM_011543675.1:c.18331T>C	XP_011541977.1:p.Phe6111Leu
XM_011543676.1:c.18253T>C	XP_011541978.1:p.Phe6085Leu
XM_011543677.1:c.15637T>C	XP_011541979.1:p.Phe5213Leu
XM_017009963.2:c.18355T>C	XP_016865452.1:p.Phe6119Leu
XM_017009964.2:c.18352T>C	XP_016865453.1:p.Phe6118Leu
XM_017009965.1:c.18352T>C	XP_016865454.1:p.Phe6118Leu
XM_017009966.2:c.18274T>C	XP_016865455.1:p.Phe6092Leu
XM_017009967.1:c.18259T>C	XP_016865456.1:p.Phe6087Leu
XM_017009968.2:c.18175T>C	XP_016865457.1:p.Phe6059Leu
XM_017009969.2:c.18355T>C	XP_016865458.1:p.Phe6119Leu
XM_017009972.1:c.11473T>C	XP_016865461.1:p.Phe3825Leu
XM_017009973.1:c.11452T>C	XP_016865462.1:p.Phe3818Leu