Canonical Allele Identifier: CA360386023

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89913753T>C (hg19) ; chr5:g.90617936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617936T>C , CM000667.2:g.90617936T>C	GRCh38
NC_000005.9:g.89913753T>C , CM000667.1:g.89913753T>C	GRCh37
NC_000005.8:g.89949509T>C	NCBI36
NG_007083.1:g.64137T>C
NG_007083.2:g.93593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.340T>C MANE Select	ENSP00000384582.2:p.Phe114Leu
ENST00000638316.1:n.550T>C
ENST00000638638.1:n.747T>C
ENST00000640083.1:n.45T>C
ENST00000640109.1:n.436T>C
ENST00000640281.1:n.399T>C
ENST00000405460.6:c.340T>C	ENSP00000384582.2:p.Phe114Leu
ENST00000508842.5:c.352T>C	ENSP00000425936.1:p.Phe118Leu
NM_032119.3:c.340T>C	NP_115495.3:p.Phe114Leu
NR_003149.1:n.436T>C
XM_011543675.1:c.340T>C	XP_011541977.1:p.Phe114Leu
XM_011543676.1:c.340T>C	XP_011541978.1:p.Phe114Leu
XM_011543678.1:c.340T>C	XP_011541980.1:p.Phe114Leu
XM_011543679.1:c.340T>C	XP_011541981.1:p.Phe114Leu
NM_032119.4:c.340T>C MANE Select	NP_115495.3:p.Phe114Leu
XM_017009963.2:c.340T>C	XP_016865452.1:p.Phe114Leu
XM_017009964.2:c.340T>C	XP_016865453.1:p.Phe114Leu
XM_017009965.1:c.337T>C	XP_016865454.1:p.Phe113Leu
XM_017009966.2:c.340T>C	XP_016865455.1:p.Phe114Leu
XM_017009967.1:c.340T>C	XP_016865456.1:p.Phe114Leu
XM_017009968.2:c.340T>C	XP_016865457.1:p.Phe114Leu
XM_017009969.2:c.340T>C	XP_016865458.1:p.Phe114Leu
XM_017009970.2:c.340T>C	XP_016865459.1:p.Phe114Leu
XM_017009971.2:c.340T>C	XP_016865460.1:p.Phe114Leu
XM_017009974.2:c.340T>C	XP_016865463.1:p.Phe114Leu
NR_003149.2:n.439T>C