Canonical Allele Identifier: CA360396308

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712372-T-C
• MyVariant Identifiers: chr5:g.90008189T>C (hg19) ; chr5:g.90712372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712372T>C , CM000667.2:g.90712372T>C	GRCh38
NC_000005.9:g.90008189T>C , CM000667.1:g.90008189T>C	GRCh37
NC_000005.8:g.90043945T>C	NCBI36
NG_007083.1:g.158573T>C
NG_007083.2:g.188029T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9128T>C MANE Select	ENSP00000384582.2:p.Phe3043Ser
ENST00000639431.1:c.265+36163T>C	ENSP00000491057.1:n.265+36163T>C
ENST00000639473.1:n.4587T>C
ENST00000640012.1:c.2935T>C
ENST00000640374.1:n.2272T>C
ENST00000640779.1:c.3857T>C
ENST00000405460.6:c.9128T>C	ENSP00000384582.2:p.Phe3043Ser
ENST00000509621.1:c.1825T>C
NM_032119.3:c.9128T>C	NP_115495.3:p.Phe3043Ser
NR_003149.1:n.9141T>C
XM_011543675.1:c.9125T>C	XP_011541977.1:p.Phe3042Ser
XM_011543676.1:c.9047T>C	XP_011541978.1:p.Phe3016Ser
XM_011543677.1:c.6431T>C	XP_011541979.1:p.Phe2144Ser
XM_011543678.1:c.9128T>C	XP_011541980.1:p.Phe3043Ser
XM_011543679.1:c.9128T>C	XP_011541981.1:p.Phe3043Ser
NM_032119.4:c.9128T>C MANE Select	NP_115495.3:p.Phe3043Ser
XM_017009963.2:c.9149T>C	XP_016865452.1:p.Phe3050Ser
XM_017009964.2:c.9146T>C	XP_016865453.1:p.Phe3049Ser
XM_017009965.1:c.9146T>C	XP_016865454.1:p.Phe3049Ser
XM_017009966.2:c.9068T>C	XP_016865455.1:p.Phe3023Ser
XM_017009967.1:c.9053T>C	XP_016865456.1:p.Phe3018Ser
XM_017009968.2:c.9149T>C	XP_016865457.1:p.Phe3050Ser
XM_017009969.2:c.9149T>C	XP_016865458.1:p.Phe3050Ser
XM_017009970.2:c.9149T>C	XP_016865459.1:p.Phe3050Ser
XM_017009971.2:c.9149T>C	XP_016865460.1:p.Phe3050Ser
XM_017009972.1:c.2267T>C	XP_016865461.1:p.Phe756Ser
XM_017009973.1:c.2246T>C	XP_016865462.1:p.Phe749Ser
XM_017009974.2:c.9149T>C	XP_016865463.1:p.Phe3050Ser
NR_003149.2:n.9144T>C