Canonical Allele Identifier: CA360396148

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712304-T-A
• MyVariant Identifiers: chr5:g.90008121T>A (hg19) ; chr5:g.90712304T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712304T>A , CM000667.2:g.90712304T>A	GRCh38
NC_000005.9:g.90008121T>A , CM000667.1:g.90008121T>A	GRCh37
NC_000005.8:g.90043877T>A	NCBI36
NG_007083.1:g.158505T>A
NG_007083.2:g.187961T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9060T>A MANE Select	ENSP00000384582.2:p.Asp3020Glu
ENST00000639431.1:c.265+36095T>A	ENSP00000491057.1:n.265+36095T>A
ENST00000639473.1:n.4519T>A
ENST00000640012.1:c.2867T>A
ENST00000640374.1:n.2204T>A
ENST00000640779.1:c.3789T>A
ENST00000405460.6:c.9060T>A	ENSP00000384582.2:p.Asp3020Glu
ENST00000509621.1:c.1757T>A
NM_032119.3:c.9060T>A	NP_115495.3:p.Asp3020Glu
NR_003149.1:n.9073T>A
XM_011543675.1:c.9057T>A	XP_011541977.1:p.Asp3019Glu
XM_011543676.1:c.8979T>A	XP_011541978.1:p.Asp2993Glu
XM_011543677.1:c.6363T>A	XP_011541979.1:p.Asp2121Glu
XM_011543678.1:c.9060T>A	XP_011541980.1:p.Asp3020Glu
XM_011543679.1:c.9060T>A	XP_011541981.1:p.Asp3020Glu
NM_032119.4:c.9060T>A MANE Select	NP_115495.3:p.Asp3020Glu
XM_017009963.2:c.9081T>A	XP_016865452.1:p.Asp3027Glu
XM_017009964.2:c.9078T>A	XP_016865453.1:p.Asp3026Glu
XM_017009965.1:c.9078T>A	XP_016865454.1:p.Asp3026Glu
XM_017009966.2:c.9000T>A	XP_016865455.1:p.Asp3000Glu
XM_017009967.1:c.8985T>A	XP_016865456.1:p.Asp2995Glu
XM_017009968.2:c.9081T>A	XP_016865457.1:p.Asp3027Glu
XM_017009969.2:c.9081T>A	XP_016865458.1:p.Asp3027Glu
XM_017009970.2:c.9081T>A	XP_016865459.1:p.Asp3027Glu
XM_017009971.2:c.9081T>A	XP_016865460.1:p.Asp3027Glu
XM_017009972.1:c.2199T>A	XP_016865461.1:p.Asp733Glu
XM_017009973.1:c.2178T>A	XP_016865462.1:p.Asp726Glu
XM_017009974.2:c.9081T>A	XP_016865463.1:p.Asp3027Glu
NR_003149.2:n.9076T>A