Canonical Allele Identifier: CA360371171

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988492T>C (hg19) ; chr5:g.90692675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692675T>C , CM000667.2:g.90692675T>C	GRCh38
NC_000005.9:g.89988492T>C , CM000667.1:g.89988492T>C	GRCh37
NC_000005.8:g.90024248T>C	NCBI36
NG_007083.1:g.138876T>C
NG_007083.2:g.168332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7022T>C MANE Select	ENSP00000384582.2:p.Ile2341Thr
ENST00000639431.1:c.265+16466T>C	ENSP00000491057.1:n.265+16466T>C
ENST00000639473.1:n.2481T>C
ENST00000640012.1:c.829T>C
ENST00000640374.1:n.166T>C
ENST00000640403.1:c.4313T>C	ENSP00000492531.1:p.Ile1438Thr
ENST00000640779.1:c.1751T>C
ENST00000405460.6:c.7022T>C	ENSP00000384582.2:p.Ile2341Thr
NM_032119.3:c.7022T>C	NP_115495.3:p.Ile2341Thr
NR_003149.1:n.7035T>C
XM_011543675.1:c.7019T>C	XP_011541977.1:p.Ile2340Thr
XM_011543676.1:c.6941T>C	XP_011541978.1:p.Ile2314Thr
XM_011543677.1:c.4325T>C	XP_011541979.1:p.Ile1442Thr
XM_011543678.1:c.7022T>C	XP_011541980.1:p.Ile2341Thr
XM_011543679.1:c.7022T>C	XP_011541981.1:p.Ile2341Thr
NM_032119.4:c.7022T>C MANE Select	NP_115495.3:p.Ile2341Thr
XM_017009963.2:c.7022T>C	XP_016865452.1:p.Ile2341Thr
XM_017009964.2:c.7019T>C	XP_016865453.1:p.Ile2340Thr
XM_017009965.1:c.7019T>C	XP_016865454.1:p.Ile2340Thr
XM_017009966.2:c.6941T>C	XP_016865455.1:p.Ile2314Thr
XM_017009967.1:c.6926T>C	XP_016865456.1:p.Ile2309Thr
XM_017009968.2:c.7022T>C	XP_016865457.1:p.Ile2341Thr
XM_017009969.2:c.7022T>C	XP_016865458.1:p.Ile2341Thr
XM_017009970.2:c.7022T>C	XP_016865459.1:p.Ile2341Thr
XM_017009971.2:c.7022T>C	XP_016865460.1:p.Ile2341Thr
XM_017009972.1:c.140T>C	XP_016865461.1:p.Ile47Thr
XM_017009973.1:c.140T>C	XP_016865462.1:p.Ile47Thr
XM_017009974.2:c.7022T>C	XP_016865463.1:p.Ile2341Thr
NR_003149.2:n.7038T>C