Canonical Allele Identifier: CA360367499

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755183-C-A
• MyVariant Identifiers: chr5:g.90051000C>A (hg19) ; chr5:g.90755183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755183C>A , CM000667.2:g.90755183C>A	GRCh38
NC_000005.9:g.90051000C>A , CM000667.1:g.90051000C>A	GRCh37
NC_000005.8:g.90086756C>A	NCBI36
NG_007083.1:g.201384C>A
NG_007083.2:g.230840C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11578C>A MANE Select	ENSP00000384582.2:p.Pro3860Thr
ENST00000425867.3:c.709C>A	ENSP00000392618.3:p.Pro237Thr
ENST00000639431.1:c.265+78974C>A	ENSP00000491057.1:n.265+78974C>A
ENST00000640374.1:n.4722C>A
ENST00000640464.1:n.1997C>A
ENST00000405460.6:c.11578C>A	ENSP00000384582.2:p.Pro3860Thr
ENST00000509621.1:c.4275C>A
NM_032119.3:c.11578C>A	NP_115495.3:p.Pro3860Thr
NR_003149.1:n.11591C>A
XM_011543675.1:c.11575C>A	XP_011541977.1:p.Pro3859Thr
XM_011543676.1:c.11497C>A	XP_011541978.1:p.Pro3833Thr
XM_011543677.1:c.8881C>A	XP_011541979.1:p.Pro2961Thr
XM_011543678.1:c.11578C>A	XP_011541980.1:p.Pro3860Thr
NM_032119.4:c.11578C>A MANE Select	NP_115495.3:p.Pro3860Thr
XM_017009963.2:c.11599C>A	XP_016865452.1:p.Pro3867Thr
XM_017009964.2:c.11596C>A	XP_016865453.1:p.Pro3866Thr
XM_017009965.1:c.11596C>A	XP_016865454.1:p.Pro3866Thr
XM_017009966.2:c.11518C>A	XP_016865455.1:p.Pro3840Thr
XM_017009967.1:c.11503C>A	XP_016865456.1:p.Pro3835Thr
XM_017009968.2:c.11599C>A	XP_016865457.1:p.Pro3867Thr
XM_017009969.2:c.11599C>A	XP_016865458.1:p.Pro3867Thr
XM_017009970.2:c.11599C>A	XP_016865459.1:p.Pro3867Thr
XM_017009971.2:c.11599C>A	XP_016865460.1:p.Pro3867Thr
XM_017009972.1:c.4717C>A	XP_016865461.1:p.Pro1573Thr
XM_017009973.1:c.4696C>A	XP_016865462.1:p.Pro1566Thr
NR_003149.2:n.11594C>A