Canonical Allele Identifier: CA360396353

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712393-C-T
• COSMIC: COSM3856851
• MyVariant Identifiers: chr5:g.90008210C>T (hg19) ; chr5:g.90712393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712393C>T , CM000667.2:g.90712393C>T	GRCh38
NC_000005.9:g.90008210C>T , CM000667.1:g.90008210C>T	GRCh37
NC_000005.8:g.90043966C>T	NCBI36
NG_007083.1:g.158594C>T
NG_007083.2:g.188050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9149C>T MANE Select	ENSP00000384582.2:p.Pro3050Leu
ENST00000639431.1:c.265+36184C>T	ENSP00000491057.1:n.265+36184C>T
ENST00000639473.1:n.4608C>T
ENST00000640012.1:c.2956C>T
ENST00000640374.1:n.2293C>T
ENST00000640779.1:c.3878C>T
ENST00000405460.6:c.9149C>T	ENSP00000384582.2:p.Pro3050Leu
ENST00000509621.1:c.1846C>T
NM_032119.3:c.9149C>T	NP_115495.3:p.Pro3050Leu
NR_003149.1:n.9162C>T
XM_011543675.1:c.9146C>T	XP_011541977.1:p.Pro3049Leu
XM_011543676.1:c.9068C>T	XP_011541978.1:p.Pro3023Leu
XM_011543677.1:c.6452C>T	XP_011541979.1:p.Pro2151Leu
XM_011543678.1:c.9149C>T	XP_011541980.1:p.Pro3050Leu
XM_011543679.1:c.9149C>T	XP_011541981.1:p.Pro3050Leu
XR_948560.1:n.453G>A
NM_032119.4:c.9149C>T MANE Select	NP_115495.3:p.Pro3050Leu
XM_017009963.2:c.9170C>T	XP_016865452.1:p.Pro3057Leu
XM_017009964.2:c.9167C>T	XP_016865453.1:p.Pro3056Leu
XM_017009965.1:c.9167C>T	XP_016865454.1:p.Pro3056Leu
XM_017009966.2:c.9089C>T	XP_016865455.1:p.Pro3030Leu
XM_017009967.1:c.9074C>T	XP_016865456.1:p.Pro3025Leu
XM_017009968.2:c.9170C>T	XP_016865457.1:p.Pro3057Leu
XM_017009969.2:c.9170C>T	XP_016865458.1:p.Pro3057Leu
XM_017009970.2:c.9170C>T	XP_016865459.1:p.Pro3057Leu
XM_017009971.2:c.9170C>T	XP_016865460.1:p.Pro3057Leu
XM_017009972.1:c.2288C>T	XP_016865461.1:p.Pro763Leu
XM_017009973.1:c.2267C>T	XP_016865462.1:p.Pro756Leu
XM_017009974.2:c.9170C>T	XP_016865463.1:p.Pro3057Leu
NR_003149.2:n.9165C>T