Canonical Allele Identifier: CA360408931

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2623838
• ClinVar RCV Id: RCV003375183
• dbSNP Id: rs1754537798
• gnomAD v4: 5-90745631-A-G
• MyVariant Identifiers: chr5:g.90041448A>G (hg19) ; chr5:g.90745631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745631A>G , CM000667.2:g.90745631A>G	GRCh38
NC_000005.9:g.90041448A>G , CM000667.1:g.90041448A>G	GRCh37
NC_000005.8:g.90077204A>G	NCBI36
NG_007083.1:g.191832A>G
NG_007083.2:g.221288A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10810A>G MANE Select	ENSP00000384582.2:p.Thr3604Ala
ENST00000639431.1:c.265+69422A>G	ENSP00000491057.1:n.265+69422A>G
ENST00000640374.1:n.3954A>G
ENST00000640464.1:n.1229A>G
ENST00000405460.6:c.10810A>G	ENSP00000384582.2:p.Thr3604Ala
ENST00000509621.1:c.3507A>G
NM_032119.3:c.10810A>G	NP_115495.3:p.Thr3604Ala
NR_003149.1:n.10823A>G
XM_011543675.1:c.10807A>G	XP_011541977.1:p.Thr3603Ala
XM_011543676.1:c.10729A>G	XP_011541978.1:p.Thr3577Ala
XM_011543677.1:c.8113A>G	XP_011541979.1:p.Thr2705Ala
XM_011543678.1:c.10810A>G	XP_011541980.1:p.Thr3604Ala
XM_011543679.1:c.*32A>G	XP_011541981.1:n.*32A>G
NM_032119.4:c.10810A>G MANE Select	NP_115495.3:p.Thr3604Ala
XM_017009963.2:c.10831A>G	XP_016865452.1:p.Thr3611Ala
XM_017009964.2:c.10828A>G	XP_016865453.1:p.Thr3610Ala
XM_017009965.1:c.10828A>G	XP_016865454.1:p.Thr3610Ala
XM_017009966.2:c.10750A>G	XP_016865455.1:p.Thr3584Ala
XM_017009967.1:c.10735A>G	XP_016865456.1:p.Thr3579Ala
XM_017009968.2:c.10831A>G	XP_016865457.1:p.Thr3611Ala
XM_017009969.2:c.10831A>G	XP_016865458.1:p.Thr3611Ala
XM_017009970.2:c.10831A>G	XP_016865459.1:p.Thr3611Ala
XM_017009971.2:c.10831A>G	XP_016865460.1:p.Thr3611Ala
XM_017009972.1:c.3949A>G	XP_016865461.1:p.Thr1317Ala
XM_017009973.1:c.3928A>G	XP_016865462.1:p.Thr1310Ala
XM_017009974.2:c.*32A>G	XP_016865463.1:n.*32A>G
NR_003149.2:n.10826A>G