Canonical Allele Identifier: CA3339693

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90683890T>C , CM000667.2:g.90683890T>C	GRCh38
NC_000005.9:g.89979707T>C , CM000667.1:g.89979707T>C	GRCh37
NC_000005.8:g.90015463T>C	NCBI36
NG_007083.1:g.130091T>C
NG_007083.2:g.159547T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.5969T>C MANE Select	NP_115495.3:p.Val1990Ala
ENST00000405460.9:c.5969T>C MANE Select	ENSP00000384582.2:p.Val1990Ala
NM_032119.3:c.5969T>C	NP_115495.3:p.Val1990Ala
NR_003149.1:n.6065T>C
NR_003149.2:n.6068T>C
ENST00000405460.6:c.5969T>C	ENSP00000384582.2:p.Val1990Ala
ENST00000639431.1:c.265+7681T>C	ENSP00000491057.1:n.265+7681T>C
ENST00000639473.1:n.1428T>C
ENST00000640012.1:c.165-1890T>C
ENST00000640403.1:c.3260T>C	ENSP00000492531.1:p.Val1087Ala
ENST00000640779.1:c.781T>C
XM_011543675.1:c.5966T>C	XP_011541977.1:p.Val1989Ala
XM_011543676.1:c.5888T>C	XP_011541978.1:p.Val1963Ala
XM_011543677.1:c.3272T>C	XP_011541979.1:p.Val1091Ala
XM_011543678.1:c.5969T>C	XP_011541980.1:p.Val1990Ala
XM_011543679.1:c.5969T>C	XP_011541981.1:p.Val1990Ala
XM_017009963.2:c.5969T>C	XP_016865452.1:p.Val1990Ala
XM_017009964.2:c.5966T>C	XP_016865453.1:p.Val1989Ala
XM_017009965.1:c.5966T>C	XP_016865454.1:p.Val1989Ala
XM_017009966.2:c.5888T>C	XP_016865455.1:p.Val1963Ala
XM_017009967.1:c.5873T>C	XP_016865456.1:p.Val1958Ala
XM_017009968.2:c.5969T>C	XP_016865457.1:p.Val1990Ala
XM_017009969.2:c.5969T>C	XP_016865458.1:p.Val1990Ala
XM_017009970.2:c.5969T>C	XP_016865459.1:p.Val1990Ala
XM_017009971.2:c.5969T>C	XP_016865460.1:p.Val1990Ala
XM_017009973.1:c.-831T>C	XP_016865462.1:n.-831T>C
XM_017009974.2:c.5969T>C	XP_016865463.1:p.Val1990Ala