Canonical Allele Identifier: CA3341452

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90781506C>T , CM000667.2:g.90781506C>T	GRCh38
NC_000005.9:g.90077323C>T , CM000667.1:g.90077323C>T	GRCh37
NC_000005.8:g.90113079C>T	NCBI36
NG_007083.1:g.227707C>T
NG_007083.2:g.257163C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.13159C>T MANE Select	NP_115495.3:p.Arg4387Cys
ENST00000405460.9:c.13159C>T MANE Select	ENSP00000384582.2:p.Arg4387Cys
NM_032119.3:c.13159C>T	NP_115495.3:p.Arg4387Cys
NR_003149.1:n.13172C>T
NR_003149.2:n.13175C>T
ENST00000405460.6:c.13159C>T	ENSP00000384582.2:p.Arg4387Cys
ENST00000425867.2:c.142C>T	ENSP00000392618.2:p.Arg48Cys
ENST00000425867.3:c.2113C>T	ENSP00000392618.3:p.Arg705Cys
ENST00000638510.1:n.426C>T
ENST00000639431.1:c.265+105297C>T	ENSP00000491057.1:n.265+105297C>T
XM_011543675.1:c.13156C>T	XP_011541977.1:p.Arg4386Cys
XM_011543676.1:c.13078C>T	XP_011541978.1:p.Arg4360Cys
XM_011543677.1:c.10462C>T	XP_011541979.1:p.Arg3488Cys
XM_011543678.1:c.13159C>T	XP_011541980.1:p.Arg4387Cys
XM_017009963.2:c.13180C>T	XP_016865452.1:p.Arg4394Cys
XM_017009964.2:c.13177C>T	XP_016865453.1:p.Arg4393Cys
XM_017009965.1:c.13177C>T	XP_016865454.1:p.Arg4393Cys
XM_017009966.2:c.13099C>T	XP_016865455.1:p.Arg4367Cys
XM_017009967.1:c.13084C>T	XP_016865456.1:p.Arg4362Cys
XM_017009968.2:c.13180C>T	XP_016865457.1:p.Arg4394Cys
XM_017009969.2:c.13180C>T	XP_016865458.1:p.Arg4394Cys
XM_017009970.2:c.13180C>T	XP_016865459.1:p.Arg4394Cys
XM_017009971.2:c.13180C>T	XP_016865460.1:p.Arg4394Cys
XM_017009972.1:c.6298C>T	XP_016865461.1:p.Arg2100Cys
XM_017009973.1:c.6277C>T	XP_016865462.1:p.Arg2093Cys