Canonical Allele Identifier: CA3339714

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2232513
• ClinVar RCV Id: RCV002728143
• dbSNP Id: rs771950377
• ExAC: 5:89979880 C / T
• gnomAD v2: 5-89979880-C-T
• gnomAD v4: 5-90684063-C-T
• MyVariant Identifiers: chr5:g.89979880C>T (hg19) ; chr5:g.90684063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684063C>T , CM000667.2:g.90684063C>T	GRCh38
NC_000005.9:g.89979880C>T , CM000667.1:g.89979880C>T	GRCh37
NC_000005.8:g.90015636C>T	NCBI36
NG_007083.1:g.130264C>T
NG_007083.2:g.159720C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6142C>T MANE Select	ENSP00000384582.2:p.Leu2048Phe
ENST00000639431.1:c.265+7854C>T	ENSP00000491057.1:n.265+7854C>T
ENST00000639473.1:n.1601C>T
ENST00000640012.1:c.165-1717C>T
ENST00000640403.1:c.3433C>T	ENSP00000492531.1:p.Leu1145Phe
ENST00000640779.1:c.954C>T
ENST00000405460.6:c.6142C>T	ENSP00000384582.2:p.Leu2048Phe
NM_032119.3:c.6142C>T	NP_115495.3:p.Leu2048Phe
NR_003149.1:n.6238C>T
XM_011543675.1:c.6139C>T	XP_011541977.1:p.Leu2047Phe
XM_011543676.1:c.6061C>T	XP_011541978.1:p.Leu2021Phe
XM_011543677.1:c.3445C>T	XP_011541979.1:p.Leu1149Phe
XM_011543678.1:c.6142C>T	XP_011541980.1:p.Leu2048Phe
XM_011543679.1:c.6142C>T	XP_011541981.1:p.Leu2048Phe
NM_032119.4:c.6142C>T MANE Select	NP_115495.3:p.Leu2048Phe
XM_017009963.2:c.6142C>T	XP_016865452.1:p.Leu2048Phe
XM_017009964.2:c.6139C>T	XP_016865453.1:p.Leu2047Phe
XM_017009965.1:c.6139C>T	XP_016865454.1:p.Leu2047Phe
XM_017009966.2:c.6061C>T	XP_016865455.1:p.Leu2021Phe
XM_017009967.1:c.6046C>T	XP_016865456.1:p.Leu2016Phe
XM_017009968.2:c.6142C>T	XP_016865457.1:p.Leu2048Phe
XM_017009969.2:c.6142C>T	XP_016865458.1:p.Leu2048Phe
XM_017009970.2:c.6142C>T	XP_016865459.1:p.Leu2048Phe
XM_017009971.2:c.6142C>T	XP_016865460.1:p.Leu2048Phe
XM_017009973.1:c.-658C>T	XP_016865462.1:n.-658C>T
XM_017009974.2:c.6142C>T	XP_016865463.1:p.Leu2048Phe
NR_003149.2:n.6241C>T