Canonical Allele Identifier: CA360366242

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90627374-T-G
• MyVariant Identifiers: chr5:g.89923191T>G (hg19) ; chr5:g.90627374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627374T>G , CM000667.2:g.90627374T>G	GRCh38
NC_000005.9:g.89923191T>G , CM000667.1:g.89923191T>G	GRCh37
NC_000005.8:g.89958947T>G	NCBI36
NG_007083.1:g.73575T>G
NG_007083.2:g.103031T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.836T>G MANE Select	ENSP00000384582.2:p.Leu279Arg
ENST00000640083.1:n.541T>G
ENST00000640109.1:n.932T>G
ENST00000640281.1:n.895T>G
ENST00000405460.6:c.836T>G	ENSP00000384582.2:p.Leu279Arg
NM_032119.3:c.836T>G	NP_115495.3:p.Leu279Arg
NR_003149.1:n.932T>G
XM_011543675.1:c.836T>G	XP_011541977.1:p.Leu279Arg
XM_011543676.1:c.836T>G	XP_011541978.1:p.Leu279Arg
XM_011543678.1:c.836T>G	XP_011541980.1:p.Leu279Arg
XM_011543679.1:c.836T>G	XP_011541981.1:p.Leu279Arg
NM_032119.4:c.836T>G MANE Select	NP_115495.3:p.Leu279Arg
XM_017009963.2:c.836T>G	XP_016865452.1:p.Leu279Arg
XM_017009964.2:c.836T>G	XP_016865453.1:p.Leu279Arg
XM_017009965.1:c.833T>G	XP_016865454.1:p.Leu278Arg
XM_017009966.2:c.836T>G	XP_016865455.1:p.Leu279Arg
XM_017009967.1:c.740T>G	XP_016865456.1:p.Leu247Arg
XM_017009968.2:c.836T>G	XP_016865457.1:p.Leu279Arg
XM_017009969.2:c.836T>G	XP_016865458.1:p.Leu279Arg
XM_017009970.2:c.836T>G	XP_016865459.1:p.Leu279Arg
XM_017009971.2:c.836T>G	XP_016865460.1:p.Leu279Arg
XM_017009974.2:c.836T>G	XP_016865463.1:p.Leu279Arg
NR_003149.2:n.935T>G