Canonical Allele Identifier: CA360378857

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763445G>C , CM000667.2:g.90763445G>C	GRCh38
NC_000005.9:g.90059262G>C , CM000667.1:g.90059262G>C	GRCh37
NC_000005.8:g.90095018G>C	NCBI36
NG_007083.1:g.209646G>C
NG_007083.2:g.239102G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12261G>C MANE Select	NP_115495.3:p.Leu4087Phe
ENST00000405460.9:c.12261G>C MANE Select	ENSP00000384582.2:p.Leu4087Phe
NM_032119.3:c.12261G>C	NP_115495.3:p.Leu4087Phe
NR_003149.1:n.12274G>C
NR_003149.2:n.12277G>C
ENST00000405460.6:c.12261G>C	ENSP00000384582.2:p.Leu4087Phe
ENST00000425867.3:c.1215G>C	ENSP00000392618.3:p.Leu405Phe
ENST00000639431.1:c.265+87236G>C	ENSP00000491057.1:n.265+87236G>C
ENST00000640464.1:n.2680G>C
ENST00000640729.1:n.838G>C
XM_011543675.1:c.12258G>C	XP_011541977.1:p.Leu4086Phe
XM_011543676.1:c.12180G>C	XP_011541978.1:p.Leu4060Phe
XM_011543677.1:c.9564G>C	XP_011541979.1:p.Leu3188Phe
XM_011543678.1:c.12261G>C	XP_011541980.1:p.Leu4087Phe
XM_017009963.2:c.12282G>C	XP_016865452.1:p.Leu4094Phe
XM_017009964.2:c.12279G>C	XP_016865453.1:p.Leu4093Phe
XM_017009965.1:c.12279G>C	XP_016865454.1:p.Leu4093Phe
XM_017009966.2:c.12201G>C	XP_016865455.1:p.Leu4067Phe
XM_017009967.1:c.12186G>C	XP_016865456.1:p.Leu4062Phe
XM_017009968.2:c.12282G>C	XP_016865457.1:p.Leu4094Phe
XM_017009969.2:c.12282G>C	XP_016865458.1:p.Leu4094Phe
XM_017009970.2:c.12282G>C	XP_016865459.1:p.Leu4094Phe
XM_017009971.2:c.12282G>C	XP_016865460.1:p.Leu4094Phe
XM_017009972.1:c.5400G>C	XP_016865461.1:p.Leu1800Phe
XM_017009973.1:c.5379G>C	XP_016865462.1:p.Leu1793Phe