Canonical Allele Identifier: CA360425495

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90823450-T-C
• MyVariant Identifiers: chr5:g.90119267T>C (hg19) ; chr5:g.90823450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823450T>C , CM000667.2:g.90823450T>C	GRCh38
NC_000005.9:g.90119267T>C , CM000667.1:g.90119267T>C	GRCh37
NC_000005.8:g.90155023T>C	NCBI36
NG_007083.1:g.269651T>C
NG_007083.2:g.299107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16222T>C MANE Select	ENSP00000384582.2:p.Trp5408Arg
ENST00000425867.3:c.5176T>C	ENSP00000392618.3:p.Trp1726Arg
ENST00000638510.1:n.3489T>C
ENST00000639431.1:c.265+147241T>C	ENSP00000491057.1:n.265+147241T>C
ENST00000640061.1:n.128+1268T>C
ENST00000640407.1:c.2632T>C	ENSP00000491425.1:p.Trp878Arg
ENST00000405460.6:c.16222T>C	ENSP00000384582.2:p.Trp5408Arg
ENST00000425867.2:c.3205T>C	ENSP00000392618.2:p.Trp1069Arg
NM_032119.3:c.16222T>C	NP_115495.3:p.Trp5408Arg
NR_003149.1:n.16235T>C
XM_011543675.1:c.16219T>C	XP_011541977.1:p.Trp5407Arg
XM_011543676.1:c.16141T>C	XP_011541978.1:p.Trp5381Arg
XM_011543677.1:c.13525T>C	XP_011541979.1:p.Trp4509Arg
NM_032119.4:c.16222T>C MANE Select	NP_115495.3:p.Trp5408Arg
XM_017009963.2:c.16243T>C	XP_016865452.1:p.Trp5415Arg
XM_017009964.2:c.16240T>C	XP_016865453.1:p.Trp5414Arg
XM_017009965.1:c.16240T>C	XP_016865454.1:p.Trp5414Arg
XM_017009966.2:c.16162T>C	XP_016865455.1:p.Trp5388Arg
XM_017009967.1:c.16147T>C	XP_016865456.1:p.Trp5383Arg
XM_017009968.2:c.16063T>C	XP_016865457.1:p.Trp5355Arg
XM_017009969.2:c.16243T>C	XP_016865458.1:p.Trp5415Arg
XM_017009972.1:c.9361T>C	XP_016865461.1:p.Trp3121Arg
XM_017009973.1:c.9340T>C	XP_016865462.1:p.Trp3114Arg
NR_003149.2:n.16238T>C