Canonical Allele Identifier: CA360371685

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988551G>C (hg19) ; chr5:g.90692734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692734G>C , CM000667.2:g.90692734G>C	GRCh38
NC_000005.9:g.89988551G>C , CM000667.1:g.89988551G>C	GRCh37
NC_000005.8:g.90024307G>C	NCBI36
NG_007083.1:g.138935G>C
NG_007083.2:g.168391G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7081G>C MANE Select	ENSP00000384582.2:p.Val2361Leu
ENST00000639431.1:c.265+16525G>C	ENSP00000491057.1:n.265+16525G>C
ENST00000639473.1:n.2540G>C
ENST00000640012.1:c.888G>C
ENST00000640374.1:n.225G>C
ENST00000640403.1:c.4372G>C	ENSP00000492531.1:p.Val1458Leu
ENST00000640779.1:c.1810G>C
ENST00000405460.6:c.7081G>C	ENSP00000384582.2:p.Val2361Leu
NM_032119.3:c.7081G>C	NP_115495.3:p.Val2361Leu
NR_003149.1:n.7094G>C
XM_011543675.1:c.7078G>C	XP_011541977.1:p.Val2360Leu
XM_011543676.1:c.7000G>C	XP_011541978.1:p.Val2334Leu
XM_011543677.1:c.4384G>C	XP_011541979.1:p.Val1462Leu
XM_011543678.1:c.7081G>C	XP_011541980.1:p.Val2361Leu
XM_011543679.1:c.7081G>C	XP_011541981.1:p.Val2361Leu
NM_032119.4:c.7081G>C MANE Select	NP_115495.3:p.Val2361Leu
XM_017009963.2:c.7081G>C	XP_016865452.1:p.Val2361Leu
XM_017009964.2:c.7078G>C	XP_016865453.1:p.Val2360Leu
XM_017009965.1:c.7078G>C	XP_016865454.1:p.Val2360Leu
XM_017009966.2:c.7000G>C	XP_016865455.1:p.Val2334Leu
XM_017009967.1:c.6985G>C	XP_016865456.1:p.Val2329Leu
XM_017009968.2:c.7081G>C	XP_016865457.1:p.Val2361Leu
XM_017009969.2:c.7081G>C	XP_016865458.1:p.Val2361Leu
XM_017009970.2:c.7081G>C	XP_016865459.1:p.Val2361Leu
XM_017009971.2:c.7081G>C	XP_016865460.1:p.Val2361Leu
XM_017009972.1:c.199G>C	XP_016865461.1:p.Val67Leu
XM_017009973.1:c.199G>C	XP_016865462.1:p.Val67Leu
XM_017009974.2:c.7081G>C	XP_016865463.1:p.Val2361Leu
NR_003149.2:n.7097G>C