Canonical Allele Identifier: CA360376992

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763305-G-T
• MyVariant Identifiers: chr5:g.90059122G>T (hg19) ; chr5:g.90763305G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763305G>T , CM000667.2:g.90763305G>T	GRCh38
NC_000005.9:g.90059122G>T , CM000667.1:g.90059122G>T	GRCh37
NC_000005.8:g.90094878G>T	NCBI36
NG_007083.1:g.209506G>T
NG_007083.2:g.238962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12121G>T MANE Select	ENSP00000384582.2:p.Val4041Leu
ENST00000425867.3:c.1075G>T	ENSP00000392618.3:p.Val359Leu
ENST00000639431.1:c.265+87096G>T	ENSP00000491057.1:n.265+87096G>T
ENST00000640464.1:n.2540G>T
ENST00000640729.1:n.698G>T
ENST00000405460.6:c.12121G>T	ENSP00000384582.2:p.Val4041Leu
NM_032119.3:c.12121G>T	NP_115495.3:p.Val4041Leu
NR_003149.1:n.12134G>T
XM_011543675.1:c.12118G>T	XP_011541977.1:p.Val4040Leu
XM_011543676.1:c.12040G>T	XP_011541978.1:p.Val4014Leu
XM_011543677.1:c.9424G>T	XP_011541979.1:p.Val3142Leu
XM_011543678.1:c.12121G>T	XP_011541980.1:p.Val4041Leu
NM_032119.4:c.12121G>T MANE Select	NP_115495.3:p.Val4041Leu
XM_017009963.2:c.12142G>T	XP_016865452.1:p.Val4048Leu
XM_017009964.2:c.12139G>T	XP_016865453.1:p.Val4047Leu
XM_017009965.1:c.12139G>T	XP_016865454.1:p.Val4047Leu
XM_017009966.2:c.12061G>T	XP_016865455.1:p.Val4021Leu
XM_017009967.1:c.12046G>T	XP_016865456.1:p.Val4016Leu
XM_017009968.2:c.12142G>T	XP_016865457.1:p.Val4048Leu
XM_017009969.2:c.12142G>T	XP_016865458.1:p.Val4048Leu
XM_017009970.2:c.12142G>T	XP_016865459.1:p.Val4048Leu
XM_017009971.2:c.12142G>T	XP_016865460.1:p.Val4048Leu
XM_017009972.1:c.5260G>T	XP_016865461.1:p.Val1754Leu
XM_017009973.1:c.5239G>T	XP_016865462.1:p.Val1747Leu
NR_003149.2:n.12137G>T