Canonical Allele Identifier: CA360409221

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041514A>C (hg19) ; chr5:g.90745697A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745697A>C , CM000667.2:g.90745697A>C	GRCh38
NC_000005.9:g.90041514A>C , CM000667.1:g.90041514A>C	GRCh37
NC_000005.8:g.90077270A>C	NCBI36
NG_007083.1:g.191898A>C
NG_007083.2:g.221354A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10876A>C MANE Select	ENSP00000384582.2:p.Lys3626Gln
ENST00000425867.3:c.7A>C	ENSP00000392618.3:p.Lys3Gln
ENST00000639431.1:c.265+69488A>C	ENSP00000491057.1:n.265+69488A>C
ENST00000640374.1:n.4020A>C
ENST00000640464.1:n.1295A>C
ENST00000405460.6:c.10876A>C	ENSP00000384582.2:p.Lys3626Gln
ENST00000509621.1:c.3573A>C
NM_032119.3:c.10876A>C	NP_115495.3:p.Lys3626Gln
NR_003149.1:n.10889A>C
XM_011543675.1:c.10873A>C	XP_011541977.1:p.Lys3625Gln
XM_011543676.1:c.10795A>C	XP_011541978.1:p.Lys3599Gln
XM_011543677.1:c.8179A>C	XP_011541979.1:p.Lys2727Gln
XM_011543678.1:c.10876A>C	XP_011541980.1:p.Lys3626Gln
NM_032119.4:c.10876A>C MANE Select	NP_115495.3:p.Lys3626Gln
XM_017009963.2:c.10897A>C	XP_016865452.1:p.Lys3633Gln
XM_017009964.2:c.10894A>C	XP_016865453.1:p.Lys3632Gln
XM_017009965.1:c.10894A>C	XP_016865454.1:p.Lys3632Gln
XM_017009966.2:c.10816A>C	XP_016865455.1:p.Lys3606Gln
XM_017009967.1:c.10801A>C	XP_016865456.1:p.Lys3601Gln
XM_017009968.2:c.10897A>C	XP_016865457.1:p.Lys3633Gln
XM_017009969.2:c.10897A>C	XP_016865458.1:p.Lys3633Gln
XM_017009970.2:c.10897A>C	XP_016865459.1:p.Lys3633Gln
XM_017009971.2:c.10897A>C	XP_016865460.1:p.Lys3633Gln
XM_017009972.1:c.4015A>C	XP_016865461.1:p.Lys1339Gln
XM_017009973.1:c.3994A>C	XP_016865462.1:p.Lys1332Gln
NR_003149.2:n.10892A>C