Canonical Allele Identifier: CA360377357

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059158G>C (hg19) ; chr5:g.90763341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763341G>C , CM000667.2:g.90763341G>C	GRCh38
NC_000005.9:g.90059158G>C , CM000667.1:g.90059158G>C	GRCh37
NC_000005.8:g.90094914G>C	NCBI36
NG_007083.1:g.209542G>C
NG_007083.2:g.238998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12157G>C MANE Select	ENSP00000384582.2:p.Asp4053His
ENST00000425867.3:c.1111G>C	ENSP00000392618.3:p.Asp371His
ENST00000639431.1:c.265+87132G>C	ENSP00000491057.1:n.265+87132G>C
ENST00000640464.1:n.2576G>C
ENST00000640729.1:n.734G>C
ENST00000405460.6:c.12157G>C	ENSP00000384582.2:p.Asp4053His
NM_032119.3:c.12157G>C	NP_115495.3:p.Asp4053His
NR_003149.1:n.12170G>C
XM_011543675.1:c.12154G>C	XP_011541977.1:p.Asp4052His
XM_011543676.1:c.12076G>C	XP_011541978.1:p.Asp4026His
XM_011543677.1:c.9460G>C	XP_011541979.1:p.Asp3154His
XM_011543678.1:c.12157G>C	XP_011541980.1:p.Asp4053His
NM_032119.4:c.12157G>C MANE Select	NP_115495.3:p.Asp4053His
XM_017009963.2:c.12178G>C	XP_016865452.1:p.Asp4060His
XM_017009964.2:c.12175G>C	XP_016865453.1:p.Asp4059His
XM_017009965.1:c.12175G>C	XP_016865454.1:p.Asp4059His
XM_017009966.2:c.12097G>C	XP_016865455.1:p.Asp4033His
XM_017009967.1:c.12082G>C	XP_016865456.1:p.Asp4028His
XM_017009968.2:c.12178G>C	XP_016865457.1:p.Asp4060His
XM_017009969.2:c.12178G>C	XP_016865458.1:p.Asp4060His
XM_017009970.2:c.12178G>C	XP_016865459.1:p.Asp4060His
XM_017009971.2:c.12178G>C	XP_016865460.1:p.Asp4060His
XM_017009972.1:c.5296G>C	XP_016865461.1:p.Asp1766His
XM_017009973.1:c.5275G>C	XP_016865462.1:p.Asp1759His
NR_003149.2:n.12173G>C