Canonical Allele Identifier: CA270123

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 143158
• ClinVar RCV Id: RCV000132685
• dbSNP Id: rs527236132
• MyVariant Identifiers: chr5:g.90070121G>T (hg19) ; chr5:g.90774304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90774304G>T , CM000667.2:g.90774304G>T	GRCh38
NC_000005.9:g.90070121G>T , CM000667.1:g.90070121G>T	GRCh37
NC_000005.8:g.90105877G>T	NCBI36
NG_007083.1:g.220505G>T
NG_007083.2:g.249961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12403+1G>T MANE Select	ENSP00000384582.2:n.12403+1G>T
ENST00000425867.3:c.1357+1G>T	ENSP00000392618.3:n.1357+1G>T
ENST00000639431.1:c.265+98095G>T	ENSP00000491057.1:n.265+98095G>T
ENST00000640464.1:n.2822+1G>T
ENST00000640729.1:n.980+1G>T
ENST00000405460.6:c.12403+1G>T	ENSP00000384582.2:n.12403+1G>T
NM_032119.3:c.12403+1G>T	NP_115495.3:n.12403+1G>T
NR_003149.1:n.12416+1G>T
XM_011543675.1:c.12400+1G>T	XP_011541977.1:n.12400+1G>T
XM_011543676.1:c.12322+1G>T	XP_011541978.1:n.12322+1G>T
XM_011543677.1:c.9706+1G>T	XP_011541979.1:n.9706+1G>T
XM_011543678.1:c.12403+1G>T	XP_011541980.1:n.12403+1G>T
NM_032119.4:c.12403+1G>T MANE Select	NP_115495.3:n.12403+1G>T
XM_017009963.2:c.12424+1G>T	XP_016865452.1:n.12424+1G>T
XM_017009964.2:c.12421+1G>T	XP_016865453.1:n.12421+1G>T
XM_017009965.1:c.12421+1G>T	XP_016865454.1:n.12421+1G>T
XM_017009966.2:c.12343+1G>T	XP_016865455.1:n.12343+1G>T
XM_017009967.1:c.12328+1G>T	XP_016865456.1:n.12328+1G>T
XM_017009968.2:c.12424+1G>T	XP_016865457.1:n.12424+1G>T
XM_017009969.2:c.12424+1G>T	XP_016865458.1:n.12424+1G>T
XM_017009970.2:c.12424+1G>T	XP_016865459.1:n.12424+1G>T
XM_017009971.2:c.12424+1G>T	XP_016865460.1:n.12424+1G>T
XM_017009972.1:c.5542+1G>T	XP_016865461.1:n.5542+1G>T
XM_017009973.1:c.5521+1G>T	XP_016865462.1:n.5521+1G>T
NR_003149.2:n.12419+1G>T