Canonical Allele Identifier: CA3339251

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90653434T>C , CM000667.2:g.90653434T>C	GRCh38
NC_000005.9:g.89949251T>C , CM000667.1:g.89949251T>C	GRCh37
NC_000005.8:g.89985007T>C	NCBI36
NG_007083.1:g.99635T>C
NG_007083.2:g.129091T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.3860T>C MANE Select	NP_115495.3:p.Ile1287Thr
ENST00000405460.9:c.3860T>C MANE Select	ENSP00000384582.2:p.Ile1287Thr
NM_032119.3:c.3860T>C	NP_115495.3:p.Ile1287Thr
NR_003149.1:n.3956T>C
NR_003149.2:n.3959T>C
ENST00000405460.6:c.3860T>C	ENSP00000384582.2:p.Ile1287Thr
ENST00000504142.1:c.2625T>C
ENST00000504142.2:n.2626T>C
ENST00000639676.1:n.1458T>C
ENST00000640403.1:c.1151T>C	ENSP00000492531.1:p.Ile384Thr
XM_011543675.1:c.3860T>C	XP_011541977.1:p.Ile1287Thr
XM_011543676.1:c.3860T>C	XP_011541978.1:p.Ile1287Thr
XM_011543677.1:c.1163T>C	XP_011541979.1:p.Ile388Thr
XM_011543678.1:c.3860T>C	XP_011541980.1:p.Ile1287Thr
XM_011543679.1:c.3860T>C	XP_011541981.1:p.Ile1287Thr
XM_017009963.2:c.3860T>C	XP_016865452.1:p.Ile1287Thr
XM_017009964.2:c.3860T>C	XP_016865453.1:p.Ile1287Thr
XM_017009965.1:c.3857T>C	XP_016865454.1:p.Ile1286Thr
XM_017009966.2:c.3860T>C	XP_016865455.1:p.Ile1287Thr
XM_017009967.1:c.3764T>C	XP_016865456.1:p.Ile1255Thr
XM_017009968.2:c.3860T>C	XP_016865457.1:p.Ile1287Thr
XM_017009969.2:c.3860T>C	XP_016865458.1:p.Ile1287Thr
XM_017009970.2:c.3860T>C	XP_016865459.1:p.Ile1287Thr
XM_017009971.2:c.3860T>C	XP_016865460.1:p.Ile1287Thr
XM_017009974.2:c.3860T>C	XP_016865463.1:p.Ile1287Thr