Canonical Allele Identifier: CA360425692

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90119369G>T (hg19) ; chr5:g.90823552G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823552G>T , CM000667.2:g.90823552G>T	GRCh38
NC_000005.9:g.90119369G>T , CM000667.1:g.90119369G>T	GRCh37
NC_000005.8:g.90155125G>T	NCBI36
NG_007083.1:g.269753G>T
NG_007083.2:g.299209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16324G>T MANE Select	ENSP00000384582.2:p.Gly5442Cys
ENST00000425867.3:c.5278G>T	ENSP00000392618.3:p.Gly1760Cys
ENST00000638510.1:n.3591G>T
ENST00000639431.1:c.265+147343G>T	ENSP00000491057.1:n.265+147343G>T
ENST00000640061.1:n.128+1370G>T
ENST00000640407.1:c.2734G>T	ENSP00000491425.1:p.Gly912Cys
ENST00000405460.6:c.16324G>T	ENSP00000384582.2:p.Gly5442Cys
ENST00000425867.2:c.3307G>T	ENSP00000392618.2:p.Gly1103Cys
NM_032119.3:c.16324G>T	NP_115495.3:p.Gly5442Cys
NR_003149.1:n.16337G>T
XM_011543675.1:c.16321G>T	XP_011541977.1:p.Gly5441Cys
XM_011543676.1:c.16243G>T	XP_011541978.1:p.Gly5415Cys
XM_011543677.1:c.13627G>T	XP_011541979.1:p.Gly4543Cys
NM_032119.4:c.16324G>T MANE Select	NP_115495.3:p.Gly5442Cys
XM_017009963.2:c.16345G>T	XP_016865452.1:p.Gly5449Cys
XM_017009964.2:c.16342G>T	XP_016865453.1:p.Gly5448Cys
XM_017009965.1:c.16342G>T	XP_016865454.1:p.Gly5448Cys
XM_017009966.2:c.16264G>T	XP_016865455.1:p.Gly5422Cys
XM_017009967.1:c.16249G>T	XP_016865456.1:p.Gly5417Cys
XM_017009968.2:c.16165G>T	XP_016865457.1:p.Gly5389Cys
XM_017009969.2:c.16345G>T	XP_016865458.1:p.Gly5449Cys
XM_017009972.1:c.9463G>T	XP_016865461.1:p.Gly3155Cys
XM_017009973.1:c.9442G>T	XP_016865462.1:p.Gly3148Cys
NR_003149.2:n.16340G>T