Canonical Allele Identifier: CA360366726

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050891A>C (hg19) ; chr5:g.90755074A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755074A>C , CM000667.2:g.90755074A>C	GRCh38
NC_000005.9:g.90050891A>C , CM000667.1:g.90050891A>C	GRCh37
NC_000005.8:g.90086647A>C	NCBI36
NG_007083.1:g.201275A>C
NG_007083.2:g.230731A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11469A>C MANE Select	ENSP00000384582.2:p.Leu3823Phe
ENST00000425867.3:c.600A>C	ENSP00000392618.3:p.Leu200Phe
ENST00000639431.1:c.265+78865A>C	ENSP00000491057.1:n.265+78865A>C
ENST00000640374.1:n.4613A>C
ENST00000640464.1:n.1888A>C
ENST00000405460.6:c.11469A>C	ENSP00000384582.2:p.Leu3823Phe
ENST00000509621.1:c.4166A>C
NM_032119.3:c.11469A>C	NP_115495.3:p.Leu3823Phe
NR_003149.1:n.11482A>C
XM_011543675.1:c.11466A>C	XP_011541977.1:p.Leu3822Phe
XM_011543676.1:c.11388A>C	XP_011541978.1:p.Leu3796Phe
XM_011543677.1:c.8772A>C	XP_011541979.1:p.Leu2924Phe
XM_011543678.1:c.11469A>C	XP_011541980.1:p.Leu3823Phe
NM_032119.4:c.11469A>C MANE Select	NP_115495.3:p.Leu3823Phe
XM_017009963.2:c.11490A>C	XP_016865452.1:p.Leu3830Phe
XM_017009964.2:c.11487A>C	XP_016865453.1:p.Leu3829Phe
XM_017009965.1:c.11487A>C	XP_016865454.1:p.Leu3829Phe
XM_017009966.2:c.11409A>C	XP_016865455.1:p.Leu3803Phe
XM_017009967.1:c.11394A>C	XP_016865456.1:p.Leu3798Phe
XM_017009968.2:c.11490A>C	XP_016865457.1:p.Leu3830Phe
XM_017009969.2:c.11490A>C	XP_016865458.1:p.Leu3830Phe
XM_017009970.2:c.11490A>C	XP_016865459.1:p.Leu3830Phe
XM_017009971.2:c.11490A>C	XP_016865460.1:p.Leu3830Phe
XM_017009972.1:c.4608A>C	XP_016865461.1:p.Leu1536Phe
XM_017009973.1:c.4587A>C	XP_016865462.1:p.Leu1529Phe
NR_003149.2:n.11485A>C