Canonical Allele Identifier: CA3342735

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.91153378T>C , CM000667.2:g.91153378T>C	GRCh38
NC_000005.9:g.90449195T>C , CM000667.1:g.90449195T>C	GRCh37
NC_000005.8:g.90484951T>C	NCBI36
NG_007083.1:g.599579T>C
NG_007083.2:g.629035T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18782T>C MANE Select	NP_115495.3:p.Leu6261Ser
ENST00000405460.9:c.18782T>C MANE Select	ENSP00000384582.2:p.Leu6261Ser
NM_032119.3:c.18782T>C	NP_115495.3:p.Leu6261Ser
NR_003149.1:n.18795T>C
NR_003149.2:n.18798T>C
ENST00000405460.6:c.18782T>C	ENSP00000384582.2:p.Leu6261Ser
ENST00000425867.2:c.5765T>C	ENSP00000392618.2:p.Leu1922Ser
ENST00000425867.3:c.7736T>C	ENSP00000392618.3:p.Leu2579Ser
ENST00000638510.1:n.6049T>C
ENST00000638990.1:c.1994T>C
ENST00000639212.1:n.702T>C
ENST00000639530.1:n.650T>C
ENST00000639821.1:c.517-10404T>C	ENSP00000492216.1:n.517-10404T>C
ENST00000640256.1:n.458T>C
ENST00000640407.1:c.5231T>C	ENSP00000491425.1:n.5231T>C
ENST00000640815.1:c.866T>C	ENSP00000491767.1:p.Leu289Ser
XM_011543675.1:c.18779T>C	XP_011541977.1:p.Leu6260Ser
XM_011543676.1:c.18701T>C	XP_011541978.1:p.Leu6234Ser
XM_011543677.1:c.16085T>C	XP_011541979.1:p.Leu5362Ser
XM_017009963.2:c.18803T>C	XP_016865452.1:p.Leu6268Ser
XM_017009964.2:c.18800T>C	XP_016865453.1:p.Leu6267Ser
XM_017009965.1:c.18800T>C	XP_016865454.1:p.Leu6267Ser
XM_017009966.2:c.18722T>C	XP_016865455.1:p.Leu6241Ser
XM_017009967.1:c.18707T>C	XP_016865456.1:p.Leu6236Ser
XM_017009968.2:c.18623T>C	XP_016865457.1:p.Leu6208Ser
XM_017009969.2:c.18454-10404T>C	XP_016865458.1:n.18454-10404T>C
XM_017009972.1:c.11921T>C	XP_016865461.1:p.Leu3974Ser
XM_017009973.1:c.11900T>C	XP_016865462.1:p.Leu3967Ser
XR_001742795.1:n.225-1190A>G
XR_001742796.1:n.225-17384A>G