Canonical Allele Identifier: CA3342555

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90985462T>C , CM000667.2:g.90985462T>C	GRCh38
NC_000005.9:g.90281279T>C , CM000667.1:g.90281279T>C	GRCh37
NC_000005.8:g.90317035T>C	NCBI36
NG_007083.1:g.431663T>C
NG_007083.2:g.461119T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18092T>C MANE Select	NP_115495.3:p.Ile6031Thr
ENST00000405460.9:c.18092T>C MANE Select	ENSP00000384582.2:p.Ile6031Thr
NM_032119.3:c.18092T>C	NP_115495.3:p.Ile6031Thr
NR_003149.1:n.18105T>C
NR_003149.2:n.18108T>C
ENST00000405460.6:c.18092T>C	ENSP00000384582.2:p.Ile6031Thr
ENST00000425867.2:c.5075T>C	ENSP00000392618.2:p.Ile1692Thr
ENST00000425867.3:c.7046T>C	ENSP00000392618.3:p.Ile2349Thr
ENST00000638510.1:n.5359T>C
ENST00000638990.1:c.1304T>C
ENST00000639431.1:c.384T>C	ENSP00000491057.1:n.384T>C
ENST00000639707.1:c.176T>C	ENSP00000492328.1:p.Ile59Thr
ENST00000639821.1:c.176T>C	ENSP00000492216.1:p.Ile59Thr
ENST00000640369.1:c.176T>C	ENSP00000491401.1:p.Ile59Thr
ENST00000640407.1:c.4541T>C	ENSP00000491425.1:n.4541T>C
ENST00000640815.1:c.176T>C	ENSP00000491767.1:p.Ile59Thr
XM_011543675.1:c.18089T>C	XP_011541977.1:p.Ile6030Thr
XM_011543676.1:c.18011T>C	XP_011541978.1:p.Ile6004Thr
XM_011543677.1:c.15395T>C	XP_011541979.1:p.Ile5132Thr
XM_017009963.2:c.18113T>C	XP_016865452.1:p.Ile6038Thr
XM_017009964.2:c.18110T>C	XP_016865453.1:p.Ile6037Thr
XM_017009965.1:c.18110T>C	XP_016865454.1:p.Ile6037Thr
XM_017009966.2:c.18032T>C	XP_016865455.1:p.Ile6011Thr
XM_017009967.1:c.18017T>C	XP_016865456.1:p.Ile6006Thr
XM_017009968.2:c.17933T>C	XP_016865457.1:p.Ile5978Thr
XM_017009969.2:c.18113T>C	XP_016865458.1:p.Ile6038Thr
XM_017009972.1:c.11231T>C	XP_016865461.1:p.Ile3744Thr
XM_017009973.1:c.11210T>C	XP_016865462.1:p.Ile3737Thr