Canonical Allele Identifier: CA360377437

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1756718489
• gnomAD v4: 5-90763345-C-T
• MyVariant Identifiers: chr5:g.90059162C>T (hg19) ; chr5:g.90763345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763345C>T , CM000667.2:g.90763345C>T	GRCh38
NC_000005.9:g.90059162C>T , CM000667.1:g.90059162C>T	GRCh37
NC_000005.8:g.90094918C>T	NCBI36
NG_007083.1:g.209546C>T
NG_007083.2:g.239002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12161C>T MANE Select	ENSP00000384582.2:p.Ser4054Leu
ENST00000425867.3:c.1115C>T	ENSP00000392618.3:p.Ser372Leu
ENST00000639431.1:c.265+87136C>T	ENSP00000491057.1:n.265+87136C>T
ENST00000640464.1:n.2580C>T
ENST00000640729.1:n.738C>T
ENST00000405460.6:c.12161C>T	ENSP00000384582.2:p.Ser4054Leu
NM_032119.3:c.12161C>T	NP_115495.3:p.Ser4054Leu
NR_003149.1:n.12174C>T
XM_011543675.1:c.12158C>T	XP_011541977.1:p.Ser4053Leu
XM_011543676.1:c.12080C>T	XP_011541978.1:p.Ser4027Leu
XM_011543677.1:c.9464C>T	XP_011541979.1:p.Ser3155Leu
XM_011543678.1:c.12161C>T	XP_011541980.1:p.Ser4054Leu
NM_032119.4:c.12161C>T MANE Select	NP_115495.3:p.Ser4054Leu
XM_017009963.2:c.12182C>T	XP_016865452.1:p.Ser4061Leu
XM_017009964.2:c.12179C>T	XP_016865453.1:p.Ser4060Leu
XM_017009965.1:c.12179C>T	XP_016865454.1:p.Ser4060Leu
XM_017009966.2:c.12101C>T	XP_016865455.1:p.Ser4034Leu
XM_017009967.1:c.12086C>T	XP_016865456.1:p.Ser4029Leu
XM_017009968.2:c.12182C>T	XP_016865457.1:p.Ser4061Leu
XM_017009969.2:c.12182C>T	XP_016865458.1:p.Ser4061Leu
XM_017009970.2:c.12182C>T	XP_016865459.1:p.Ser4061Leu
XM_017009971.2:c.12182C>T	XP_016865460.1:p.Ser4061Leu
XM_017009972.1:c.5300C>T	XP_016865461.1:p.Ser1767Leu
XM_017009973.1:c.5279C>T	XP_016865462.1:p.Ser1760Leu
NR_003149.2:n.12177C>T