Canonical Allele Identifier: CA360366481

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90627408-T-G
• MyVariant Identifiers: chr5:g.89923225T>G (hg19) ; chr5:g.90627408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627408T>G , CM000667.2:g.90627408T>G	GRCh38
NC_000005.9:g.89923225T>G , CM000667.1:g.89923225T>G	GRCh37
NC_000005.8:g.89958981T>G	NCBI36
NG_007083.1:g.73609T>G
NG_007083.2:g.103065T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.870T>G MANE Select	ENSP00000384582.2:p.Asn290Lys
ENST00000640083.1:n.575T>G
ENST00000640109.1:n.966T>G
ENST00000640281.1:n.929T>G
ENST00000405460.6:c.870T>G	ENSP00000384582.2:p.Asn290Lys
NM_032119.3:c.870T>G	NP_115495.3:p.Asn290Lys
NR_003149.1:n.966T>G
XM_011543675.1:c.870T>G	XP_011541977.1:p.Asn290Lys
XM_011543676.1:c.870T>G	XP_011541978.1:p.Asn290Lys
XM_011543678.1:c.870T>G	XP_011541980.1:p.Asn290Lys
XM_011543679.1:c.870T>G	XP_011541981.1:p.Asn290Lys
NM_032119.4:c.870T>G MANE Select	NP_115495.3:p.Asn290Lys
XM_017009963.2:c.870T>G	XP_016865452.1:p.Asn290Lys
XM_017009964.2:c.870T>G	XP_016865453.1:p.Asn290Lys
XM_017009965.1:c.867T>G	XP_016865454.1:p.Asn289Lys
XM_017009966.2:c.870T>G	XP_016865455.1:p.Asn290Lys
XM_017009967.1:c.774T>G	XP_016865456.1:p.Asn258Lys
XM_017009968.2:c.870T>G	XP_016865457.1:p.Asn290Lys
XM_017009969.2:c.870T>G	XP_016865458.1:p.Asn290Lys
XM_017009970.2:c.870T>G	XP_016865459.1:p.Asn290Lys
XM_017009971.2:c.870T>G	XP_016865460.1:p.Asn290Lys
XM_017009974.2:c.870T>G	XP_016865463.1:p.Asn290Lys
NR_003149.2:n.969T>G