Canonical Allele Identifier: CA445404088

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1558169
• ClinVar RCV Id: RCV002190595
• dbSNP Id: rs1325121350
• gnomAD v4: 5-90755075-C-T
• MyVariant Identifiers: chr5:g.90050892C>T (hg19) ; chr5:g.90755075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755075C>T , CM000667.2:g.90755075C>T	GRCh38
NC_000005.9:g.90050892C>T , CM000667.1:g.90050892C>T	GRCh37
NC_000005.8:g.90086648C>T	NCBI36
NG_007083.1:g.201276C>T
NG_007083.2:g.230732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11470C>T MANE Select	ENSP00000384582.2:p.Leu3824=
ENST00000425867.3:c.601C>T	ENSP00000392618.3:p.Leu201=
ENST00000639431.1:c.265+78866C>T	ENSP00000491057.1:n.265+78866C>T
ENST00000640374.1:n.4614C>T
ENST00000640464.1:n.1889C>T
ENST00000405460.6:c.11470C>T	ENSP00000384582.2:p.Leu3824=
ENST00000509621.1:c.4167C>T
NM_032119.3:c.11470C>T	NP_115495.3:p.Leu3824=
NR_003149.1:n.11483C>T
XM_011543675.1:c.11467C>T	XP_011541977.1:p.Leu3823=
XM_011543676.1:c.11389C>T	XP_011541978.1:p.Leu3797=
XM_011543677.1:c.8773C>T	XP_011541979.1:p.Leu2925=
XM_011543678.1:c.11470C>T	XP_011541980.1:p.Leu3824=
NM_032119.4:c.11470C>T MANE Select	NP_115495.3:p.Leu3824=
XM_017009963.2:c.11491C>T	XP_016865452.1:p.Leu3831=
XM_017009964.2:c.11488C>T	XP_016865453.1:p.Leu3830=
XM_017009965.1:c.11488C>T	XP_016865454.1:p.Leu3830=
XM_017009966.2:c.11410C>T	XP_016865455.1:p.Leu3804=
XM_017009967.1:c.11395C>T	XP_016865456.1:p.Leu3799=
XM_017009968.2:c.11491C>T	XP_016865457.1:p.Leu3831=
XM_017009969.2:c.11491C>T	XP_016865458.1:p.Leu3831=
XM_017009970.2:c.11491C>T	XP_016865459.1:p.Leu3831=
XM_017009971.2:c.11491C>T	XP_016865460.1:p.Leu3831=
XM_017009972.1:c.4609C>T	XP_016865461.1:p.Leu1537=
XM_017009973.1:c.4588C>T	XP_016865462.1:p.Leu1530=
NR_003149.2:n.11486C>T