Canonical Allele Identifier: CA360402898

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725127T>G , CM000667.2:g.90725127T>G	GRCh38
NC_000005.9:g.90020944T>G , CM000667.1:g.90020944T>G	GRCh37
NC_000005.8:g.90056700T>G	NCBI36
NG_007083.1:g.171328T>G
NG_007083.2:g.200784T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9948T>G MANE Select	NP_115495.3:p.Asn3316Lys
ENST00000405460.9:c.9948T>G MANE Select	ENSP00000384582.2:p.Asn3316Lys
NM_032119.3:c.9948T>G	NP_115495.3:p.Asn3316Lys
NR_003149.1:n.9961T>G
NR_003149.2:n.9964T>G
ENST00000405460.6:c.9948T>G	ENSP00000384582.2:p.Asn3316Lys
ENST00000509621.1:c.2645T>G
ENST00000639431.1:c.265+48918T>G	ENSP00000491057.1:n.265+48918T>G
ENST00000640374.1:n.3092T>G
ENST00000640464.1:n.367T>G
ENST00000640779.1:c.4677T>G
XM_011543675.1:c.9945T>G	XP_011541977.1:p.Asn3315Lys
XM_011543676.1:c.9867T>G	XP_011541978.1:p.Asn3289Lys
XM_011543677.1:c.7251T>G	XP_011541979.1:p.Asn2417Lys
XM_011543678.1:c.9948T>G	XP_011541980.1:p.Asn3316Lys
XM_011543679.1:c.9948T>G	XP_011541981.1:p.Asn3316Lys
XM_017009963.2:c.9969T>G	XP_016865452.1:p.Asn3323Lys
XM_017009964.2:c.9966T>G	XP_016865453.1:p.Asn3322Lys
XM_017009965.1:c.9966T>G	XP_016865454.1:p.Asn3322Lys
XM_017009966.2:c.9888T>G	XP_016865455.1:p.Asn3296Lys
XM_017009967.1:c.9873T>G	XP_016865456.1:p.Asn3291Lys
XM_017009968.2:c.9969T>G	XP_016865457.1:p.Asn3323Lys
XM_017009969.2:c.9969T>G	XP_016865458.1:p.Asn3323Lys
XM_017009970.2:c.9969T>G	XP_016865459.1:p.Asn3323Lys
XM_017009971.2:c.9969T>G	XP_016865460.1:p.Asn3323Lys
XM_017009972.1:c.3087T>G	XP_016865461.1:p.Asn1029Lys
XM_017009973.1:c.3066T>G	XP_016865462.1:p.Asn1022Lys
XM_017009974.2:c.9969T>G	XP_016865463.1:p.Asn3323Lys
XR_001742802.1:n.2523-9318A>C
XR_948560.1:n.272-9318A>C