Canonical Allele Identifier: CA360409114

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745673-G-C
• MyVariant Identifiers: chr5:g.90041490G>C (hg19) ; chr5:g.90745673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745673G>C , CM000667.2:g.90745673G>C	GRCh38
NC_000005.9:g.90041490G>C , CM000667.1:g.90041490G>C	GRCh37
NC_000005.8:g.90077246G>C	NCBI36
NG_007083.1:g.191874G>C
NG_007083.2:g.221330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10852G>C MANE Select	ENSP00000384582.2:p.Glu3618Gln
ENST00000639431.1:c.265+69464G>C	ENSP00000491057.1:n.265+69464G>C
ENST00000640374.1:n.3996G>C
ENST00000640464.1:n.1271G>C
ENST00000405460.6:c.10852G>C	ENSP00000384582.2:p.Glu3618Gln
ENST00000509621.1:c.3549G>C
NM_032119.3:c.10852G>C	NP_115495.3:p.Glu3618Gln
NR_003149.1:n.10865G>C
XM_011543675.1:c.10849G>C	XP_011541977.1:p.Glu3617Gln
XM_011543676.1:c.10771G>C	XP_011541978.1:p.Glu3591Gln
XM_011543677.1:c.8155G>C	XP_011541979.1:p.Glu2719Gln
XM_011543678.1:c.10852G>C	XP_011541980.1:p.Glu3618Gln
XM_011543679.1:c.*74G>C	XP_011541981.1:n.*74G>C
NM_032119.4:c.10852G>C MANE Select	NP_115495.3:p.Glu3618Gln
XM_017009963.2:c.10873G>C	XP_016865452.1:p.Glu3625Gln
XM_017009964.2:c.10870G>C	XP_016865453.1:p.Glu3624Gln
XM_017009965.1:c.10870G>C	XP_016865454.1:p.Glu3624Gln
XM_017009966.2:c.10792G>C	XP_016865455.1:p.Glu3598Gln
XM_017009967.1:c.10777G>C	XP_016865456.1:p.Glu3593Gln
XM_017009968.2:c.10873G>C	XP_016865457.1:p.Glu3625Gln
XM_017009969.2:c.10873G>C	XP_016865458.1:p.Glu3625Gln
XM_017009970.2:c.10873G>C	XP_016865459.1:p.Glu3625Gln
XM_017009971.2:c.10873G>C	XP_016865460.1:p.Glu3625Gln
XM_017009972.1:c.3991G>C	XP_016865461.1:p.Glu1331Gln
XM_017009973.1:c.3970G>C	XP_016865462.1:p.Glu1324Gln
XM_017009974.2:c.*74G>C	XP_016865463.1:n.*74G>C
NR_003149.2:n.10868G>C