Canonical Allele Identifier: CA360399035

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90789815-T-A
• MyVariant Identifiers: chr5:g.90085632T>A (hg19) ; chr5:g.90789815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789815T>A , CM000667.2:g.90789815T>A	GRCh38
NC_000005.9:g.90085632T>A , CM000667.1:g.90085632T>A	GRCh37
NC_000005.8:g.90121388T>A	NCBI36
NG_007083.1:g.236016T>A
NG_007083.2:g.265472T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14007T>A MANE Select	ENSP00000384582.2:p.Phe4669Leu
ENST00000425867.3:c.2961T>A	ENSP00000392618.3:p.Phe987Leu
ENST00000638510.1:n.1274T>A
ENST00000638975.1:c.636T>A	ENSP00000492630.1:p.Phe212Leu
ENST00000639431.1:c.265+113606T>A	ENSP00000491057.1:n.265+113606T>A
ENST00000640407.1:c.417T>A	ENSP00000491425.1:p.Phe139Leu
ENST00000405460.6:c.14007T>A	ENSP00000384582.2:p.Phe4669Leu
ENST00000425867.2:c.990T>A	ENSP00000392618.2:p.Phe330Leu
NM_032119.3:c.14007T>A	NP_115495.3:p.Phe4669Leu
NR_003149.1:n.14020T>A
XM_011543675.1:c.14004T>A	XP_011541977.1:p.Phe4668Leu
XM_011543676.1:c.13926T>A	XP_011541978.1:p.Phe4642Leu
XM_011543677.1:c.11310T>A	XP_011541979.1:p.Phe3770Leu
XM_011543678.1:c.14007T>A	XP_011541980.1:p.Phe4669Leu
NM_032119.4:c.14007T>A MANE Select	NP_115495.3:p.Phe4669Leu
XM_017009963.2:c.14028T>A	XP_016865452.1:p.Phe4676Leu
XM_017009964.2:c.14025T>A	XP_016865453.1:p.Phe4675Leu
XM_017009965.1:c.14025T>A	XP_016865454.1:p.Phe4675Leu
XM_017009966.2:c.13947T>A	XP_016865455.1:p.Phe4649Leu
XM_017009967.1:c.13932T>A	XP_016865456.1:p.Phe4644Leu
XM_017009968.2:c.14028T>A	XP_016865457.1:p.Phe4676Leu
XM_017009969.2:c.14028T>A	XP_016865458.1:p.Phe4676Leu
XM_017009970.2:c.14028T>A	XP_016865459.1:p.Phe4676Leu
XM_017009971.2:c.14028T>A	XP_016865460.1:p.Phe4676Leu
XM_017009972.1:c.7146T>A	XP_016865461.1:p.Phe2382Leu
XM_017009973.1:c.7125T>A	XP_016865462.1:p.Phe2375Leu
NR_003149.2:n.14023T>A