Canonical Allele Identifier: CA360366885

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1465643954
• gnomAD v2: 5-90050913-A-G
• gnomAD v4: 5-90755096-A-G
• MyVariant Identifiers: chr5:g.90050913A>G (hg19) ; chr5:g.90755096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755096A>G , CM000667.2:g.90755096A>G	GRCh38
NC_000005.9:g.90050913A>G , CM000667.1:g.90050913A>G	GRCh37
NC_000005.8:g.90086669A>G	NCBI36
NG_007083.1:g.201297A>G
NG_007083.2:g.230753A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11491A>G MANE Select	ENSP00000384582.2:p.Thr3831Ala
ENST00000425867.3:c.622A>G	ENSP00000392618.3:p.Thr208Ala
ENST00000639431.1:c.265+78887A>G	ENSP00000491057.1:n.265+78887A>G
ENST00000640374.1:n.4635A>G
ENST00000640464.1:n.1910A>G
ENST00000405460.6:c.11491A>G	ENSP00000384582.2:p.Thr3831Ala
ENST00000509621.1:c.4188A>G
NM_032119.3:c.11491A>G	NP_115495.3:p.Thr3831Ala
NR_003149.1:n.11504A>G
XM_011543675.1:c.11488A>G	XP_011541977.1:p.Thr3830Ala
XM_011543676.1:c.11410A>G	XP_011541978.1:p.Thr3804Ala
XM_011543677.1:c.8794A>G	XP_011541979.1:p.Thr2932Ala
XM_011543678.1:c.11491A>G	XP_011541980.1:p.Thr3831Ala
NM_032119.4:c.11491A>G MANE Select	NP_115495.3:p.Thr3831Ala
XM_017009963.2:c.11512A>G	XP_016865452.1:p.Thr3838Ala
XM_017009964.2:c.11509A>G	XP_016865453.1:p.Thr3837Ala
XM_017009965.1:c.11509A>G	XP_016865454.1:p.Thr3837Ala
XM_017009966.2:c.11431A>G	XP_016865455.1:p.Thr3811Ala
XM_017009967.1:c.11416A>G	XP_016865456.1:p.Thr3806Ala
XM_017009968.2:c.11512A>G	XP_016865457.1:p.Thr3838Ala
XM_017009969.2:c.11512A>G	XP_016865458.1:p.Thr3838Ala
XM_017009970.2:c.11512A>G	XP_016865459.1:p.Thr3838Ala
XM_017009971.2:c.11512A>G	XP_016865460.1:p.Thr3838Ala
XM_017009972.1:c.4630A>G	XP_016865461.1:p.Thr1544Ala
XM_017009973.1:c.4609A>G	XP_016865462.1:p.Thr1537Ala
NR_003149.2:n.11507A>G