Canonical Allele Identifier: CA360367235

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050971A>C (hg19) ; chr5:g.90755154A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755154A>C , CM000667.2:g.90755154A>C	GRCh38
NC_000005.9:g.90050971A>C , CM000667.1:g.90050971A>C	GRCh37
NC_000005.8:g.90086727A>C	NCBI36
NG_007083.1:g.201355A>C
NG_007083.2:g.230811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11549A>C MANE Select	ENSP00000384582.2:p.Lys3850Thr
ENST00000425867.3:c.680A>C	ENSP00000392618.3:p.Lys227Thr
ENST00000639431.1:c.265+78945A>C	ENSP00000491057.1:n.265+78945A>C
ENST00000640374.1:n.4693A>C
ENST00000640464.1:n.1968A>C
ENST00000405460.6:c.11549A>C	ENSP00000384582.2:p.Lys3850Thr
ENST00000509621.1:c.4246A>C
NM_032119.3:c.11549A>C	NP_115495.3:p.Lys3850Thr
NR_003149.1:n.11562A>C
XM_011543675.1:c.11546A>C	XP_011541977.1:p.Lys3849Thr
XM_011543676.1:c.11468A>C	XP_011541978.1:p.Lys3823Thr
XM_011543677.1:c.8852A>C	XP_011541979.1:p.Lys2951Thr
XM_011543678.1:c.11549A>C	XP_011541980.1:p.Lys3850Thr
NM_032119.4:c.11549A>C MANE Select	NP_115495.3:p.Lys3850Thr
XM_017009963.2:c.11570A>C	XP_016865452.1:p.Lys3857Thr
XM_017009964.2:c.11567A>C	XP_016865453.1:p.Lys3856Thr
XM_017009965.1:c.11567A>C	XP_016865454.1:p.Lys3856Thr
XM_017009966.2:c.11489A>C	XP_016865455.1:p.Lys3830Thr
XM_017009967.1:c.11474A>C	XP_016865456.1:p.Lys3825Thr
XM_017009968.2:c.11570A>C	XP_016865457.1:p.Lys3857Thr
XM_017009969.2:c.11570A>C	XP_016865458.1:p.Lys3857Thr
XM_017009970.2:c.11570A>C	XP_016865459.1:p.Lys3857Thr
XM_017009971.2:c.11570A>C	XP_016865460.1:p.Lys3857Thr
XM_017009972.1:c.4688A>C	XP_016865461.1:p.Lys1563Thr
XM_017009973.1:c.4667A>C	XP_016865462.1:p.Lys1556Thr
NR_003149.2:n.11565A>C