Canonical Allele Identifier: CA3338580

Gene: ADGRV1

Linked Data

• dbSNP Id: rs750653866
• ExAC: 5:89923281 C / A
• gnomAD v2: 5-89923281-C-A
• gnomAD v4: 5-90627464-C-A
• MyVariant Identifiers: chr5:g.89923281C>A (hg19) ; chr5:g.90627464C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627464C>A , CM000667.2:g.90627464C>A	GRCh38
NC_000005.9:g.89923281C>A , CM000667.1:g.89923281C>A	GRCh37
NC_000005.8:g.89959037C>A	NCBI36
NG_007083.1:g.73665C>A
NG_007083.2:g.103121C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.926C>A MANE Select	ENSP00000384582.2:p.Thr309Asn
ENST00000640083.1:n.631C>A
ENST00000640109.1:n.1022C>A
ENST00000640281.1:n.985C>A
ENST00000405460.6:c.926C>A	ENSP00000384582.2:p.Thr309Asn
NM_032119.3:c.926C>A	NP_115495.3:p.Thr309Asn
NR_003149.1:n.1022C>A
XM_011543675.1:c.926C>A	XP_011541977.1:p.Thr309Asn
XM_011543676.1:c.926C>A	XP_011541978.1:p.Thr309Asn
XM_011543678.1:c.926C>A	XP_011541980.1:p.Thr309Asn
XM_011543679.1:c.926C>A	XP_011541981.1:p.Thr309Asn
NM_032119.4:c.926C>A MANE Select	NP_115495.3:p.Thr309Asn
XM_017009963.2:c.926C>A	XP_016865452.1:p.Thr309Asn
XM_017009964.2:c.926C>A	XP_016865453.1:p.Thr309Asn
XM_017009965.1:c.923C>A	XP_016865454.1:p.Thr308Asn
XM_017009966.2:c.926C>A	XP_016865455.1:p.Thr309Asn
XM_017009967.1:c.830C>A	XP_016865456.1:p.Thr277Asn
XM_017009968.2:c.926C>A	XP_016865457.1:p.Thr309Asn
XM_017009969.2:c.926C>A	XP_016865458.1:p.Thr309Asn
XM_017009970.2:c.926C>A	XP_016865459.1:p.Thr309Asn
XM_017009971.2:c.926C>A	XP_016865460.1:p.Thr309Asn
XM_017009974.2:c.926C>A	XP_016865463.1:p.Thr309Asn
NR_003149.2:n.1025C>A