Canonical Allele Identifier: CA360370504

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988422G>C (hg19) ; chr5:g.90692605G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692605G>C , CM000667.2:g.90692605G>C	GRCh38
NC_000005.9:g.89988422G>C , CM000667.1:g.89988422G>C	GRCh37
NC_000005.8:g.90024178G>C	NCBI36
NG_007083.1:g.138806G>C
NG_007083.2:g.168262G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6952G>C MANE Select	ENSP00000384582.2:p.Val2318Leu
ENST00000639431.1:c.265+16396G>C	ENSP00000491057.1:n.265+16396G>C
ENST00000639473.1:n.2411G>C
ENST00000640012.1:c.759G>C
ENST00000640374.1:n.96G>C
ENST00000640403.1:c.4243G>C	ENSP00000492531.1:p.Val1415Leu
ENST00000640779.1:c.1681G>C
ENST00000405460.6:c.6952G>C	ENSP00000384582.2:p.Val2318Leu
NM_032119.3:c.6952G>C	NP_115495.3:p.Val2318Leu
NR_003149.1:n.6965G>C
XM_011543675.1:c.6949G>C	XP_011541977.1:p.Val2317Leu
XM_011543676.1:c.6871G>C	XP_011541978.1:p.Val2291Leu
XM_011543677.1:c.4255G>C	XP_011541979.1:p.Val1419Leu
XM_011543678.1:c.6952G>C	XP_011541980.1:p.Val2318Leu
XM_011543679.1:c.6952G>C	XP_011541981.1:p.Val2318Leu
NM_032119.4:c.6952G>C MANE Select	NP_115495.3:p.Val2318Leu
XM_017009963.2:c.6952G>C	XP_016865452.1:p.Val2318Leu
XM_017009964.2:c.6949G>C	XP_016865453.1:p.Val2317Leu
XM_017009965.1:c.6949G>C	XP_016865454.1:p.Val2317Leu
XM_017009966.2:c.6871G>C	XP_016865455.1:p.Val2291Leu
XM_017009967.1:c.6856G>C	XP_016865456.1:p.Val2286Leu
XM_017009968.2:c.6952G>C	XP_016865457.1:p.Val2318Leu
XM_017009969.2:c.6952G>C	XP_016865458.1:p.Val2318Leu
XM_017009970.2:c.6952G>C	XP_016865459.1:p.Val2318Leu
XM_017009971.2:c.6952G>C	XP_016865460.1:p.Val2318Leu
XM_017009972.1:c.70G>C	XP_016865461.1:p.Val24Leu
XM_017009973.1:c.70G>C	XP_016865462.1:p.Val24Leu
XM_017009974.2:c.6952G>C	XP_016865463.1:p.Val2318Leu
NR_003149.2:n.6968G>C