Canonical Allele Identifier: CA360425777

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90823589-C-T
• MyVariant Identifiers: chr5:g.90119406C>T (hg19) ; chr5:g.90823589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823589C>T , CM000667.2:g.90823589C>T	GRCh38
NC_000005.9:g.90119406C>T , CM000667.1:g.90119406C>T	GRCh37
NC_000005.8:g.90155162C>T	NCBI36
NG_007083.1:g.269790C>T
NG_007083.2:g.299246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16361C>T MANE Select	ENSP00000384582.2:p.Pro5454Leu
ENST00000425867.3:c.5315C>T	ENSP00000392618.3:p.Pro1772Leu
ENST00000638510.1:n.3628C>T
ENST00000639431.1:c.265+147380C>T	ENSP00000491057.1:n.265+147380C>T
ENST00000640061.1:n.128+1407C>T
ENST00000640407.1:c.2771C>T	ENSP00000491425.1:p.Pro924Leu
ENST00000405460.6:c.16361C>T	ENSP00000384582.2:p.Pro5454Leu
ENST00000425867.2:c.3344C>T	ENSP00000392618.2:p.Pro1115Leu
NM_032119.3:c.16361C>T	NP_115495.3:p.Pro5454Leu
NR_003149.1:n.16374C>T
XM_011543675.1:c.16358C>T	XP_011541977.1:p.Pro5453Leu
XM_011543676.1:c.16280C>T	XP_011541978.1:p.Pro5427Leu
XM_011543677.1:c.13664C>T	XP_011541979.1:p.Pro4555Leu
NM_032119.4:c.16361C>T MANE Select	NP_115495.3:p.Pro5454Leu
XM_017009963.2:c.16382C>T	XP_016865452.1:p.Pro5461Leu
XM_017009964.2:c.16379C>T	XP_016865453.1:p.Pro5460Leu
XM_017009965.1:c.16379C>T	XP_016865454.1:p.Pro5460Leu
XM_017009966.2:c.16301C>T	XP_016865455.1:p.Pro5434Leu
XM_017009967.1:c.16286C>T	XP_016865456.1:p.Pro5429Leu
XM_017009968.2:c.16202C>T	XP_016865457.1:p.Pro5401Leu
XM_017009969.2:c.16382C>T	XP_016865458.1:p.Pro5461Leu
XM_017009972.1:c.9500C>T	XP_016865461.1:p.Pro3167Leu
XM_017009973.1:c.9479C>T	XP_016865462.1:p.Pro3160Leu
NR_003149.2:n.16377C>T