Canonical Allele Identifier: CA3340464

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716471A>C , CM000667.2:g.90716471A>C	GRCh38
NC_000005.9:g.90012288A>C , CM000667.1:g.90012288A>C	GRCh37
NC_000005.8:g.90048044A>C	NCBI36
NG_007083.1:g.162672A>C
NG_007083.2:g.192128A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9189A>C MANE Select	NP_115495.3:p.Leu3063Phe
ENST00000405460.9:c.9189A>C MANE Select	ENSP00000384582.2:p.Leu3063Phe
NM_032119.3:c.9189A>C	NP_115495.3:p.Leu3063Phe
NR_003149.1:n.9202A>C
NR_003149.2:n.9205A>C
ENST00000405460.6:c.9189A>C	ENSP00000384582.2:p.Leu3063Phe
ENST00000509621.1:c.1886A>C
ENST00000639431.1:c.265+40262A>C	ENSP00000491057.1:n.265+40262A>C
ENST00000639473.1:n.4648A>C
ENST00000640012.1:c.2996A>C
ENST00000640374.1:n.2333A>C
ENST00000640779.1:c.3918A>C
XM_011543675.1:c.9186A>C	XP_011541977.1:p.Leu3062Phe
XM_011543676.1:c.9108A>C	XP_011541978.1:p.Leu3036Phe
XM_011543677.1:c.6492A>C	XP_011541979.1:p.Leu2164Phe
XM_011543678.1:c.9189A>C	XP_011541980.1:p.Leu3063Phe
XM_011543679.1:c.9189A>C	XP_011541981.1:p.Leu3063Phe
XM_017009963.2:c.9210A>C	XP_016865452.1:p.Leu3070Phe
XM_017009964.2:c.9207A>C	XP_016865453.1:p.Leu3069Phe
XM_017009965.1:c.9207A>C	XP_016865454.1:p.Leu3069Phe
XM_017009966.2:c.9129A>C	XP_016865455.1:p.Leu3043Phe
XM_017009967.1:c.9114A>C	XP_016865456.1:p.Leu3038Phe
XM_017009968.2:c.9210A>C	XP_016865457.1:p.Leu3070Phe
XM_017009969.2:c.9210A>C	XP_016865458.1:p.Leu3070Phe
XM_017009970.2:c.9210A>C	XP_016865459.1:p.Leu3070Phe
XM_017009971.2:c.9210A>C	XP_016865460.1:p.Leu3070Phe
XM_017009972.1:c.2328A>C	XP_016865461.1:p.Leu776Phe
XM_017009973.1:c.2307A>C	XP_016865462.1:p.Leu769Phe
XM_017009974.2:c.9210A>C	XP_016865463.1:p.Leu3070Phe
XR_001742802.1:n.2523-662T>G
XR_948560.1:n.272-662T>G