Canonical Allele Identifier: CA360410362

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2105474
• ClinVar RCV Id: RCV003014935
• gnomAD v4: 5-90810903-T-G
• MyVariant Identifiers: chr5:g.90106720T>G (hg19) ; chr5:g.90810903T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90810903T>G , CM000667.2:g.90810903T>G	GRCh38
NC_000005.9:g.90106720T>G , CM000667.1:g.90106720T>G	GRCh37
NC_000005.8:g.90142476T>G	NCBI36
NG_007083.1:g.257104T>G
NG_007083.2:g.286560T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.15643T>G MANE Select	ENSP00000384582.2:p.Ser5215Ala
ENST00000425867.3:c.4597T>G	ENSP00000392618.3:p.Ser1533Ala
ENST00000638510.1:n.2910T>G
ENST00000639431.1:c.265+134694T>G	ENSP00000491057.1:n.265+134694T>G
ENST00000640407.1:c.2053T>G	ENSP00000491425.1:p.Ser685Ala
ENST00000405460.6:c.15643T>G	ENSP00000384582.2:p.Ser5215Ala
ENST00000425867.2:c.2626T>G	ENSP00000392618.2:p.Ser876Ala
NM_032119.3:c.15643T>G	NP_115495.3:p.Ser5215Ala
NR_003149.1:n.15656T>G
XM_011543675.1:c.15640T>G	XP_011541977.1:p.Ser5214Ala
XM_011543676.1:c.15562T>G	XP_011541978.1:p.Ser5188Ala
XM_011543677.1:c.12946T>G	XP_011541979.1:p.Ser4316Ala
NM_032119.4:c.15643T>G MANE Select	NP_115495.3:p.Ser5215Ala
XM_017009963.2:c.15664T>G	XP_016865452.1:p.Ser5222Ala
XM_017009964.2:c.15661T>G	XP_016865453.1:p.Ser5221Ala
XM_017009965.1:c.15661T>G	XP_016865454.1:p.Ser5221Ala
XM_017009966.2:c.15583T>G	XP_016865455.1:p.Ser5195Ala
XM_017009967.1:c.15568T>G	XP_016865456.1:p.Ser5190Ala
XM_017009968.2:c.15484T>G	XP_016865457.1:p.Ser5162Ala
XM_017009969.2:c.15664T>G	XP_016865458.1:p.Ser5222Ala
XM_017009972.1:c.8782T>G	XP_016865461.1:p.Ser2928Ala
XM_017009973.1:c.8761T>G	XP_016865462.1:p.Ser2921Ala
NR_003149.2:n.15659T>G