Canonical Allele Identifier: CA247438

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90807735C>A , CM000667.2:g.90807735C>A	GRCh38
NC_000005.9:g.90103552C>A , CM000667.1:g.90103552C>A	GRCh37
NC_000005.8:g.90139308C>A	NCBI36
NG_007083.1:g.253936C>A
NG_007083.2:g.283392C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.14970C>A MANE Select	NP_115495.3:p.Leu4990=
ENST00000405460.9:c.14970C>A MANE Select	ENSP00000384582.2:p.Leu4990=
NM_032119.3:c.14970C>A	NP_115495.3:p.Leu4990=
NR_003149.1:n.14983C>A
NR_003149.2:n.14986C>A
ENST00000405460.6:c.14970C>A	ENSP00000384582.2:p.Leu4990=
ENST00000425867.2:c.1953C>A	ENSP00000392618.2:p.Leu651=
ENST00000425867.3:c.3924C>A	ENSP00000392618.3:p.Leu1308=
ENST00000638510.1:n.2237C>A
ENST00000638585.1:n.428-2498C>A
ENST00000639431.1:c.265+131526C>A	ENSP00000491057.1:n.265+131526C>A
ENST00000640407.1:c.1380C>A	ENSP00000491425.1:p.Leu460=
XM_011543675.1:c.14967C>A	XP_011541977.1:p.Leu4989=
XM_011543676.1:c.14889C>A	XP_011541978.1:p.Leu4963=
XM_011543677.1:c.12273C>A	XP_011541979.1:p.Leu4091=
XM_011543678.1:c.14970C>A	XP_011541980.1:p.Leu4990=
XM_017009963.2:c.14991C>A	XP_016865452.1:p.Leu4997=
XM_017009964.2:c.14988C>A	XP_016865453.1:p.Leu4996=
XM_017009965.1:c.14988C>A	XP_016865454.1:p.Leu4996=
XM_017009966.2:c.14910C>A	XP_016865455.1:p.Leu4970=
XM_017009967.1:c.14895C>A	XP_016865456.1:p.Leu4965=
XM_017009968.2:c.14816C>A	XP_016865457.1:p.Ser4939Tyr
XM_017009969.2:c.14991C>A	XP_016865458.1:p.Leu4997=
XM_017009970.2:c.14991C>A	XP_016865459.1:p.Leu4997=
XM_017009971.2:c.14816C>A	XP_016865460.1:p.Ser4939Tyr
XM_017009972.1:c.8109C>A	XP_016865461.1:p.Leu2703=
XM_017009973.1:c.8088C>A	XP_016865462.1:p.Leu2696=