Canonical Allele Identifier: CA3341551

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90783954T>C , CM000667.2:g.90783954T>C	GRCh38
NC_000005.9:g.90079771T>C , CM000667.1:g.90079771T>C	GRCh37
NC_000005.8:g.90115527T>C	NCBI36
NG_007083.1:g.230155T>C
NG_007083.2:g.259611T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.13550T>C MANE Select	NP_115495.3:p.Ile4517Thr
ENST00000405460.9:c.13550T>C MANE Select	ENSP00000384582.2:p.Ile4517Thr
NM_032119.3:c.13550T>C	NP_115495.3:p.Ile4517Thr
NR_003149.1:n.13563T>C
NR_003149.2:n.13566T>C
ENST00000405460.6:c.13550T>C	ENSP00000384582.2:p.Ile4517Thr
ENST00000425867.2:c.533T>C	ENSP00000392618.2:p.Ile178Thr
ENST00000425867.3:c.2504T>C	ENSP00000392618.3:p.Ile835Thr
ENST00000638510.1:n.817T>C
ENST00000638975.1:c.179T>C	ENSP00000492630.1:p.Ile60Thr
ENST00000639431.1:c.265+107745T>C	ENSP00000491057.1:n.265+107745T>C
XM_011543675.1:c.13547T>C	XP_011541977.1:p.Ile4516Thr
XM_011543676.1:c.13469T>C	XP_011541978.1:p.Ile4490Thr
XM_011543677.1:c.10853T>C	XP_011541979.1:p.Ile3618Thr
XM_011543678.1:c.13550T>C	XP_011541980.1:p.Ile4517Thr
XM_017009963.2:c.13571T>C	XP_016865452.1:p.Ile4524Thr
XM_017009964.2:c.13568T>C	XP_016865453.1:p.Ile4523Thr
XM_017009965.1:c.13568T>C	XP_016865454.1:p.Ile4523Thr
XM_017009966.2:c.13490T>C	XP_016865455.1:p.Ile4497Thr
XM_017009967.1:c.13475T>C	XP_016865456.1:p.Ile4492Thr
XM_017009968.2:c.13571T>C	XP_016865457.1:p.Ile4524Thr
XM_017009969.2:c.13571T>C	XP_016865458.1:p.Ile4524Thr
XM_017009970.2:c.13571T>C	XP_016865459.1:p.Ile4524Thr
XM_017009971.2:c.13571T>C	XP_016865460.1:p.Ile4524Thr
XM_017009972.1:c.6689T>C	XP_016865461.1:p.Ile2230Thr
XM_017009973.1:c.6668T>C	XP_016865462.1:p.Ile2223Thr