Canonical Allele Identifier: CA360396215

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712333-T-C
• MyVariant Identifiers: chr5:g.90008150T>C (hg19) ; chr5:g.90712333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712333T>C , CM000667.2:g.90712333T>C	GRCh38
NC_000005.9:g.90008150T>C , CM000667.1:g.90008150T>C	GRCh37
NC_000005.8:g.90043906T>C	NCBI36
NG_007083.1:g.158534T>C
NG_007083.2:g.187990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9089T>C MANE Select	ENSP00000384582.2:p.Met3030Thr
ENST00000639431.1:c.265+36124T>C	ENSP00000491057.1:n.265+36124T>C
ENST00000639473.1:n.4548T>C
ENST00000640012.1:c.2896T>C
ENST00000640374.1:n.2233T>C
ENST00000640779.1:c.3818T>C
ENST00000405460.6:c.9089T>C	ENSP00000384582.2:p.Met3030Thr
ENST00000509621.1:c.1786T>C
NM_032119.3:c.9089T>C	NP_115495.3:p.Met3030Thr
NR_003149.1:n.9102T>C
XM_011543675.1:c.9086T>C	XP_011541977.1:p.Met3029Thr
XM_011543676.1:c.9008T>C	XP_011541978.1:p.Met3003Thr
XM_011543677.1:c.6392T>C	XP_011541979.1:p.Met2131Thr
XM_011543678.1:c.9089T>C	XP_011541980.1:p.Met3030Thr
XM_011543679.1:c.9089T>C	XP_011541981.1:p.Met3030Thr
NM_032119.4:c.9089T>C MANE Select	NP_115495.3:p.Met3030Thr
XM_017009963.2:c.9110T>C	XP_016865452.1:p.Met3037Thr
XM_017009964.2:c.9107T>C	XP_016865453.1:p.Met3036Thr
XM_017009965.1:c.9107T>C	XP_016865454.1:p.Met3036Thr
XM_017009966.2:c.9029T>C	XP_016865455.1:p.Met3010Thr
XM_017009967.1:c.9014T>C	XP_016865456.1:p.Met3005Thr
XM_017009968.2:c.9110T>C	XP_016865457.1:p.Met3037Thr
XM_017009969.2:c.9110T>C	XP_016865458.1:p.Met3037Thr
XM_017009970.2:c.9110T>C	XP_016865459.1:p.Met3037Thr
XM_017009971.2:c.9110T>C	XP_016865460.1:p.Met3037Thr
XM_017009972.1:c.2228T>C	XP_016865461.1:p.Met743Thr
XM_017009973.1:c.2207T>C	XP_016865462.1:p.Met736Thr
XM_017009974.2:c.9110T>C	XP_016865463.1:p.Met3037Thr
NR_003149.2:n.9105T>C