Canonical Allele Identifier: CA360371355

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988512C>G (hg19) ; chr5:g.90692695C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692695C>G , CM000667.2:g.90692695C>G	GRCh38
NC_000005.9:g.89988512C>G , CM000667.1:g.89988512C>G	GRCh37
NC_000005.8:g.90024268C>G	NCBI36
NG_007083.1:g.138896C>G
NG_007083.2:g.168352C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7042C>G MANE Select	ENSP00000384582.2:p.Pro2348Ala
ENST00000639431.1:c.265+16486C>G	ENSP00000491057.1:n.265+16486C>G
ENST00000639473.1:n.2501C>G
ENST00000640012.1:c.849C>G
ENST00000640374.1:n.186C>G
ENST00000640403.1:c.4333C>G	ENSP00000492531.1:p.Pro1445Ala
ENST00000640779.1:c.1771C>G
ENST00000405460.6:c.7042C>G	ENSP00000384582.2:p.Pro2348Ala
NM_032119.3:c.7042C>G	NP_115495.3:p.Pro2348Ala
NR_003149.1:n.7055C>G
XM_011543675.1:c.7039C>G	XP_011541977.1:p.Pro2347Ala
XM_011543676.1:c.6961C>G	XP_011541978.1:p.Pro2321Ala
XM_011543677.1:c.4345C>G	XP_011541979.1:p.Pro1449Ala
XM_011543678.1:c.7042C>G	XP_011541980.1:p.Pro2348Ala
XM_011543679.1:c.7042C>G	XP_011541981.1:p.Pro2348Ala
NM_032119.4:c.7042C>G MANE Select	NP_115495.3:p.Pro2348Ala
XM_017009963.2:c.7042C>G	XP_016865452.1:p.Pro2348Ala
XM_017009964.2:c.7039C>G	XP_016865453.1:p.Pro2347Ala
XM_017009965.1:c.7039C>G	XP_016865454.1:p.Pro2347Ala
XM_017009966.2:c.6961C>G	XP_016865455.1:p.Pro2321Ala
XM_017009967.1:c.6946C>G	XP_016865456.1:p.Pro2316Ala
XM_017009968.2:c.7042C>G	XP_016865457.1:p.Pro2348Ala
XM_017009969.2:c.7042C>G	XP_016865458.1:p.Pro2348Ala
XM_017009970.2:c.7042C>G	XP_016865459.1:p.Pro2348Ala
XM_017009971.2:c.7042C>G	XP_016865460.1:p.Pro2348Ala
XM_017009972.1:c.160C>G	XP_016865461.1:p.Pro54Ala
XM_017009973.1:c.160C>G	XP_016865462.1:p.Pro54Ala
XM_017009974.2:c.7042C>G	XP_016865463.1:p.Pro2348Ala
NR_003149.2:n.7058C>G