Canonical Allele Identifier: CA360408844

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041427G>C (hg19) ; chr5:g.90745610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745610G>C , CM000667.2:g.90745610G>C	GRCh38
NC_000005.9:g.90041427G>C , CM000667.1:g.90041427G>C	GRCh37
NC_000005.8:g.90077183G>C	NCBI36
NG_007083.1:g.191811G>C
NG_007083.2:g.221267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10789G>C MANE Select	ENSP00000384582.2:p.Glu3597Gln
ENST00000639431.1:c.265+69401G>C	ENSP00000491057.1:n.265+69401G>C
ENST00000640374.1:n.3933G>C
ENST00000640464.1:n.1208G>C
ENST00000405460.6:c.10789G>C	ENSP00000384582.2:p.Glu3597Gln
ENST00000509621.1:c.3486G>C
NM_032119.3:c.10789G>C	NP_115495.3:p.Glu3597Gln
NR_003149.1:n.10802G>C
XM_011543675.1:c.10786G>C	XP_011541977.1:p.Glu3596Gln
XM_011543676.1:c.10708G>C	XP_011541978.1:p.Glu3570Gln
XM_011543677.1:c.8092G>C	XP_011541979.1:p.Glu2698Gln
XM_011543678.1:c.10789G>C	XP_011541980.1:p.Glu3597Gln
XM_011543679.1:c.*11G>C	XP_011541981.1:n.*11G>C
NM_032119.4:c.10789G>C MANE Select	NP_115495.3:p.Glu3597Gln
XM_017009963.2:c.10810G>C	XP_016865452.1:p.Glu3604Gln
XM_017009964.2:c.10807G>C	XP_016865453.1:p.Glu3603Gln
XM_017009965.1:c.10807G>C	XP_016865454.1:p.Glu3603Gln
XM_017009966.2:c.10729G>C	XP_016865455.1:p.Glu3577Gln
XM_017009967.1:c.10714G>C	XP_016865456.1:p.Glu3572Gln
XM_017009968.2:c.10810G>C	XP_016865457.1:p.Glu3604Gln
XM_017009969.2:c.10810G>C	XP_016865458.1:p.Glu3604Gln
XM_017009970.2:c.10810G>C	XP_016865459.1:p.Glu3604Gln
XM_017009971.2:c.10810G>C	XP_016865460.1:p.Glu3604Gln
XM_017009972.1:c.3928G>C	XP_016865461.1:p.Glu1310Gln
XM_017009973.1:c.3907G>C	XP_016865462.1:p.Glu1303Gln
XM_017009974.2:c.*11G>C	XP_016865463.1:n.*11G>C
NR_003149.2:n.10805G>C