Canonical Allele Identifier: CA360398908

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90789783-G-T
• MyVariant Identifiers: chr5:g.90085600G>T (hg19) ; chr5:g.90789783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789783G>T , CM000667.2:g.90789783G>T	GRCh38
NC_000005.9:g.90085600G>T , CM000667.1:g.90085600G>T	GRCh37
NC_000005.8:g.90121356G>T	NCBI36
NG_007083.1:g.235984G>T
NG_007083.2:g.265440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.13975G>T MANE Select	ENSP00000384582.2:p.Ala4659Ser
ENST00000425867.3:c.2929G>T	ENSP00000392618.3:p.Ala977Ser
ENST00000638510.1:n.1242G>T
ENST00000638975.1:c.604G>T	ENSP00000492630.1:p.Ala202Ser
ENST00000639431.1:c.265+113574G>T	ENSP00000491057.1:n.265+113574G>T
ENST00000640407.1:c.385G>T	ENSP00000491425.1:p.Ala129Ser
ENST00000405460.6:c.13975G>T	ENSP00000384582.2:p.Ala4659Ser
ENST00000425867.2:c.958G>T	ENSP00000392618.2:p.Ala320Ser
NM_032119.3:c.13975G>T	NP_115495.3:p.Ala4659Ser
NR_003149.1:n.13988G>T
XM_011543675.1:c.13972G>T	XP_011541977.1:p.Ala4658Ser
XM_011543676.1:c.13894G>T	XP_011541978.1:p.Ala4632Ser
XM_011543677.1:c.11278G>T	XP_011541979.1:p.Ala3760Ser
XM_011543678.1:c.13975G>T	XP_011541980.1:p.Ala4659Ser
NM_032119.4:c.13975G>T MANE Select	NP_115495.3:p.Ala4659Ser
XM_017009963.2:c.13996G>T	XP_016865452.1:p.Ala4666Ser
XM_017009964.2:c.13993G>T	XP_016865453.1:p.Ala4665Ser
XM_017009965.1:c.13993G>T	XP_016865454.1:p.Ala4665Ser
XM_017009966.2:c.13915G>T	XP_016865455.1:p.Ala4639Ser
XM_017009967.1:c.13900G>T	XP_016865456.1:p.Ala4634Ser
XM_017009968.2:c.13996G>T	XP_016865457.1:p.Ala4666Ser
XM_017009969.2:c.13996G>T	XP_016865458.1:p.Ala4666Ser
XM_017009970.2:c.13996G>T	XP_016865459.1:p.Ala4666Ser
XM_017009971.2:c.13996G>T	XP_016865460.1:p.Ala4666Ser
XM_017009972.1:c.7114G>T	XP_016865461.1:p.Ala2372Ser
XM_017009973.1:c.7093G>T	XP_016865462.1:p.Ala2365Ser
NR_003149.2:n.13991G>T