Canonical Allele Identifier: CA3341871

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90810373T>C , CM000667.2:g.90810373T>C	GRCh38
NC_000005.9:g.90106190T>C , CM000667.1:g.90106190T>C	GRCh37
NC_000005.8:g.90141946T>C	NCBI36
NG_007083.1:g.256574T>C
NG_007083.2:g.286030T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.15113T>C MANE Select	NP_115495.3:p.Ile5038Thr
ENST00000405460.9:c.15113T>C MANE Select	ENSP00000384582.2:p.Ile5038Thr
NM_032119.3:c.15113T>C	NP_115495.3:p.Ile5038Thr
NR_003149.1:n.15126T>C
NR_003149.2:n.15129T>C
ENST00000405460.6:c.15113T>C	ENSP00000384582.2:p.Ile5038Thr
ENST00000425867.2:c.2096T>C	ENSP00000392618.2:p.Ile699Thr
ENST00000425867.3:c.4067T>C	ENSP00000392618.3:p.Ile1356Thr
ENST00000638510.1:n.2380T>C
ENST00000638585.1:n.568T>C
ENST00000639431.1:c.265+134164T>C	ENSP00000491057.1:n.265+134164T>C
ENST00000640407.1:c.1523T>C	ENSP00000491425.1:p.Ile508Thr
XM_011543675.1:c.15110T>C	XP_011541977.1:p.Ile5037Thr
XM_011543676.1:c.15032T>C	XP_011541978.1:p.Ile5011Thr
XM_011543677.1:c.12416T>C	XP_011541979.1:p.Ile4139Thr
XM_017009963.2:c.15134T>C	XP_016865452.1:p.Ile5045Thr
XM_017009964.2:c.15131T>C	XP_016865453.1:p.Ile5044Thr
XM_017009965.1:c.15131T>C	XP_016865454.1:p.Ile5044Thr
XM_017009966.2:c.15053T>C	XP_016865455.1:p.Ile5018Thr
XM_017009967.1:c.15038T>C	XP_016865456.1:p.Ile5013Thr
XM_017009968.2:c.14954T>C	XP_016865457.1:p.Ile4985Thr
XM_017009969.2:c.15134T>C	XP_016865458.1:p.Ile5045Thr
XM_017009971.2:c.*67T>C	XP_016865460.1:n.*67T>C
XM_017009972.1:c.8252T>C	XP_016865461.1:p.Ile2751Thr
XM_017009973.1:c.8231T>C	XP_016865462.1:p.Ile2744Thr