Canonical Allele Identifier: CA360403224

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90725577-C-G
• MyVariant Identifiers: chr5:g.90021394C>G (hg19) ; chr5:g.90725577C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725577C>G , CM000667.2:g.90725577C>G	GRCh38
NC_000005.9:g.90021394C>G , CM000667.1:g.90021394C>G	GRCh37
NC_000005.8:g.90057150C>G	NCBI36
NG_007083.1:g.171778C>G
NG_007083.2:g.201234C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10082C>G MANE Select	ENSP00000384582.2:p.Ser3361Cys
ENST00000639431.1:c.265+49368C>G	ENSP00000491057.1:n.265+49368C>G
ENST00000640374.1:n.3226C>G
ENST00000640464.1:n.501C>G
ENST00000405460.6:c.10082C>G	ENSP00000384582.2:p.Ser3361Cys
ENST00000509621.1:c.2779C>G
NM_032119.3:c.10082C>G	NP_115495.3:p.Ser3361Cys
NR_003149.1:n.10095C>G
XM_011543675.1:c.10079C>G	XP_011541977.1:p.Ser3360Cys
XM_011543676.1:c.10001C>G	XP_011541978.1:p.Ser3334Cys
XM_011543677.1:c.7385C>G	XP_011541979.1:p.Ser2462Cys
XM_011543678.1:c.10082C>G	XP_011541980.1:p.Ser3361Cys
XM_011543679.1:c.10082C>G	XP_011541981.1:p.Ser3361Cys
XR_948560.1:n.272-9768G>C
NM_032119.4:c.10082C>G MANE Select	NP_115495.3:p.Ser3361Cys
XM_017009963.2:c.10103C>G	XP_016865452.1:p.Ser3368Cys
XM_017009964.2:c.10100C>G	XP_016865453.1:p.Ser3367Cys
XM_017009965.1:c.10100C>G	XP_016865454.1:p.Ser3367Cys
XM_017009966.2:c.10022C>G	XP_016865455.1:p.Ser3341Cys
XM_017009967.1:c.10007C>G	XP_016865456.1:p.Ser3336Cys
XM_017009968.2:c.10103C>G	XP_016865457.1:p.Ser3368Cys
XM_017009969.2:c.10103C>G	XP_016865458.1:p.Ser3368Cys
XM_017009970.2:c.10103C>G	XP_016865459.1:p.Ser3368Cys
XM_017009971.2:c.10103C>G	XP_016865460.1:p.Ser3368Cys
XM_017009972.1:c.3221C>G	XP_016865461.1:p.Ser1074Cys
XM_017009973.1:c.3200C>G	XP_016865462.1:p.Ser1067Cys
XM_017009974.2:c.10103C>G	XP_016865463.1:p.Ser3368Cys
XR_001742802.1:n.2523-9768G>C
NR_003149.2:n.10098C>G