Canonical Allele Identifier: CA360398749

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90789755-G-C
• MyVariant Identifiers: chr5:g.90085572G>C (hg19) ; chr5:g.90789755G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789755G>C , CM000667.2:g.90789755G>C	GRCh38
NC_000005.9:g.90085572G>C , CM000667.1:g.90085572G>C	GRCh37
NC_000005.8:g.90121328G>C	NCBI36
NG_007083.1:g.235956G>C
NG_007083.2:g.265412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.13947G>C MANE Select	ENSP00000384582.2:p.Leu4649Phe
ENST00000425867.3:c.2901G>C	ENSP00000392618.3:p.Leu967Phe
ENST00000638510.1:n.1214G>C
ENST00000638975.1:c.576G>C	ENSP00000492630.1:p.Leu192Phe
ENST00000639431.1:c.265+113546G>C	ENSP00000491057.1:n.265+113546G>C
ENST00000640407.1:c.357G>C	ENSP00000491425.1:p.Leu119Phe
ENST00000405460.6:c.13947G>C	ENSP00000384582.2:p.Leu4649Phe
ENST00000425867.2:c.930G>C	ENSP00000392618.2:p.Leu310Phe
NM_032119.3:c.13947G>C	NP_115495.3:p.Leu4649Phe
NR_003149.1:n.13960G>C
XM_011543675.1:c.13944G>C	XP_011541977.1:p.Leu4648Phe
XM_011543676.1:c.13866G>C	XP_011541978.1:p.Leu4622Phe
XM_011543677.1:c.11250G>C	XP_011541979.1:p.Leu3750Phe
XM_011543678.1:c.13947G>C	XP_011541980.1:p.Leu4649Phe
NM_032119.4:c.13947G>C MANE Select	NP_115495.3:p.Leu4649Phe
XM_017009963.2:c.13968G>C	XP_016865452.1:p.Leu4656Phe
XM_017009964.2:c.13965G>C	XP_016865453.1:p.Leu4655Phe
XM_017009965.1:c.13965G>C	XP_016865454.1:p.Leu4655Phe
XM_017009966.2:c.13887G>C	XP_016865455.1:p.Leu4629Phe
XM_017009967.1:c.13872G>C	XP_016865456.1:p.Leu4624Phe
XM_017009968.2:c.13968G>C	XP_016865457.1:p.Leu4656Phe
XM_017009969.2:c.13968G>C	XP_016865458.1:p.Leu4656Phe
XM_017009970.2:c.13968G>C	XP_016865459.1:p.Leu4656Phe
XM_017009971.2:c.13968G>C	XP_016865460.1:p.Leu4656Phe
XM_017009972.1:c.7086G>C	XP_016865461.1:p.Leu2362Phe
XM_017009973.1:c.7065G>C	XP_016865462.1:p.Leu2355Phe
NR_003149.2:n.13963G>C