Canonical Allele Identifier: CA360378854

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763444-T-G
• MyVariant Identifiers: chr5:g.90059261T>G (hg19) ; chr5:g.90763444T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763444T>G , CM000667.2:g.90763444T>G	GRCh38
NC_000005.9:g.90059261T>G , CM000667.1:g.90059261T>G	GRCh37
NC_000005.8:g.90095017T>G	NCBI36
NG_007083.1:g.209645T>G
NG_007083.2:g.239101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12260T>G MANE Select	ENSP00000384582.2:p.Leu4087Trp
ENST00000425867.3:c.1214T>G	ENSP00000392618.3:p.Leu405Trp
ENST00000639431.1:c.265+87235T>G	ENSP00000491057.1:n.265+87235T>G
ENST00000640464.1:n.2679T>G
ENST00000640729.1:n.837T>G
ENST00000405460.6:c.12260T>G	ENSP00000384582.2:p.Leu4087Trp
NM_032119.3:c.12260T>G	NP_115495.3:p.Leu4087Trp
NR_003149.1:n.12273T>G
XM_011543675.1:c.12257T>G	XP_011541977.1:p.Leu4086Trp
XM_011543676.1:c.12179T>G	XP_011541978.1:p.Leu4060Trp
XM_011543677.1:c.9563T>G	XP_011541979.1:p.Leu3188Trp
XM_011543678.1:c.12260T>G	XP_011541980.1:p.Leu4087Trp
NM_032119.4:c.12260T>G MANE Select	NP_115495.3:p.Leu4087Trp
XM_017009963.2:c.12281T>G	XP_016865452.1:p.Leu4094Trp
XM_017009964.2:c.12278T>G	XP_016865453.1:p.Leu4093Trp
XM_017009965.1:c.12278T>G	XP_016865454.1:p.Leu4093Trp
XM_017009966.2:c.12200T>G	XP_016865455.1:p.Leu4067Trp
XM_017009967.1:c.12185T>G	XP_016865456.1:p.Leu4062Trp
XM_017009968.2:c.12281T>G	XP_016865457.1:p.Leu4094Trp
XM_017009969.2:c.12281T>G	XP_016865458.1:p.Leu4094Trp
XM_017009970.2:c.12281T>G	XP_016865459.1:p.Leu4094Trp
XM_017009971.2:c.12281T>G	XP_016865460.1:p.Leu4094Trp
XM_017009972.1:c.5399T>G	XP_016865461.1:p.Leu1800Trp
XM_017009973.1:c.5378T>G	XP_016865462.1:p.Leu1793Trp
NR_003149.2:n.12276T>G