Canonical Allele Identifier: CA360408847

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041428A>C (hg19) ; chr5:g.90745611A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745611A>C , CM000667.2:g.90745611A>C	GRCh38
NC_000005.9:g.90041428A>C , CM000667.1:g.90041428A>C	GRCh37
NC_000005.8:g.90077184A>C	NCBI36
NG_007083.1:g.191812A>C
NG_007083.2:g.221268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10790A>C MANE Select	ENSP00000384582.2:p.Glu3597Ala
ENST00000639431.1:c.265+69402A>C	ENSP00000491057.1:n.265+69402A>C
ENST00000640374.1:n.3934A>C
ENST00000640464.1:n.1209A>C
ENST00000405460.6:c.10790A>C	ENSP00000384582.2:p.Glu3597Ala
ENST00000509621.1:c.3487A>C
NM_032119.3:c.10790A>C	NP_115495.3:p.Glu3597Ala
NR_003149.1:n.10803A>C
XM_011543675.1:c.10787A>C	XP_011541977.1:p.Glu3596Ala
XM_011543676.1:c.10709A>C	XP_011541978.1:p.Glu3570Ala
XM_011543677.1:c.8093A>C	XP_011541979.1:p.Glu2698Ala
XM_011543678.1:c.10790A>C	XP_011541980.1:p.Glu3597Ala
XM_011543679.1:c.*12A>C	XP_011541981.1:n.*12A>C
NM_032119.4:c.10790A>C MANE Select	NP_115495.3:p.Glu3597Ala
XM_017009963.2:c.10811A>C	XP_016865452.1:p.Glu3604Ala
XM_017009964.2:c.10808A>C	XP_016865453.1:p.Glu3603Ala
XM_017009965.1:c.10808A>C	XP_016865454.1:p.Glu3603Ala
XM_017009966.2:c.10730A>C	XP_016865455.1:p.Glu3577Ala
XM_017009967.1:c.10715A>C	XP_016865456.1:p.Glu3572Ala
XM_017009968.2:c.10811A>C	XP_016865457.1:p.Glu3604Ala
XM_017009969.2:c.10811A>C	XP_016865458.1:p.Glu3604Ala
XM_017009970.2:c.10811A>C	XP_016865459.1:p.Glu3604Ala
XM_017009971.2:c.10811A>C	XP_016865460.1:p.Glu3604Ala
XM_017009972.1:c.3929A>C	XP_016865461.1:p.Glu1310Ala
XM_017009973.1:c.3908A>C	XP_016865462.1:p.Glu1303Ala
XM_017009974.2:c.*12A>C	XP_016865463.1:n.*12A>C
NR_003149.2:n.10806A>C