Canonical Allele Identifier: CA360378621

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059247T>G (hg19) ; chr5:g.90763430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763430T>G , CM000667.2:g.90763430T>G	GRCh38
NC_000005.9:g.90059247T>G , CM000667.1:g.90059247T>G	GRCh37
NC_000005.8:g.90095003T>G	NCBI36
NG_007083.1:g.209631T>G
NG_007083.2:g.239087T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12246T>G MANE Select	ENSP00000384582.2:p.His4082Gln
ENST00000425867.3:c.1200T>G	ENSP00000392618.3:p.His400Gln
ENST00000639431.1:c.265+87221T>G	ENSP00000491057.1:n.265+87221T>G
ENST00000640464.1:n.2665T>G
ENST00000640729.1:n.823T>G
ENST00000405460.6:c.12246T>G	ENSP00000384582.2:p.His4082Gln
NM_032119.3:c.12246T>G	NP_115495.3:p.His4082Gln
NR_003149.1:n.12259T>G
XM_011543675.1:c.12243T>G	XP_011541977.1:p.His4081Gln
XM_011543676.1:c.12165T>G	XP_011541978.1:p.His4055Gln
XM_011543677.1:c.9549T>G	XP_011541979.1:p.His3183Gln
XM_011543678.1:c.12246T>G	XP_011541980.1:p.His4082Gln
NM_032119.4:c.12246T>G MANE Select	NP_115495.3:p.His4082Gln
XM_017009963.2:c.12267T>G	XP_016865452.1:p.His4089Gln
XM_017009964.2:c.12264T>G	XP_016865453.1:p.His4088Gln
XM_017009965.1:c.12264T>G	XP_016865454.1:p.His4088Gln
XM_017009966.2:c.12186T>G	XP_016865455.1:p.His4062Gln
XM_017009967.1:c.12171T>G	XP_016865456.1:p.His4057Gln
XM_017009968.2:c.12267T>G	XP_016865457.1:p.His4089Gln
XM_017009969.2:c.12267T>G	XP_016865458.1:p.His4089Gln
XM_017009970.2:c.12267T>G	XP_016865459.1:p.His4089Gln
XM_017009971.2:c.12267T>G	XP_016865460.1:p.His4089Gln
XM_017009972.1:c.5385T>G	XP_016865461.1:p.His1795Gln
XM_017009973.1:c.5364T>G	XP_016865462.1:p.His1788Gln
NR_003149.2:n.12262T>G