Canonical Allele Identifier: CA360367020

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755115-T-C
• MyVariant Identifiers: chr5:g.90050932T>C (hg19) ; chr5:g.90755115T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755115T>C , CM000667.2:g.90755115T>C	GRCh38
NC_000005.9:g.90050932T>C , CM000667.1:g.90050932T>C	GRCh37
NC_000005.8:g.90086688T>C	NCBI36
NG_007083.1:g.201316T>C
NG_007083.2:g.230772T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11510T>C MANE Select	ENSP00000384582.2:p.Val3837Ala
ENST00000425867.3:c.641T>C	ENSP00000392618.3:p.Val214Ala
ENST00000639431.1:c.265+78906T>C	ENSP00000491057.1:n.265+78906T>C
ENST00000640374.1:n.4654T>C
ENST00000640464.1:n.1929T>C
ENST00000405460.6:c.11510T>C	ENSP00000384582.2:p.Val3837Ala
ENST00000509621.1:c.4207T>C
NM_032119.3:c.11510T>C	NP_115495.3:p.Val3837Ala
NR_003149.1:n.11523T>C
XM_011543675.1:c.11507T>C	XP_011541977.1:p.Val3836Ala
XM_011543676.1:c.11429T>C	XP_011541978.1:p.Val3810Ala
XM_011543677.1:c.8813T>C	XP_011541979.1:p.Val2938Ala
XM_011543678.1:c.11510T>C	XP_011541980.1:p.Val3837Ala
NM_032119.4:c.11510T>C MANE Select	NP_115495.3:p.Val3837Ala
XM_017009963.2:c.11531T>C	XP_016865452.1:p.Val3844Ala
XM_017009964.2:c.11528T>C	XP_016865453.1:p.Val3843Ala
XM_017009965.1:c.11528T>C	XP_016865454.1:p.Val3843Ala
XM_017009966.2:c.11450T>C	XP_016865455.1:p.Val3817Ala
XM_017009967.1:c.11435T>C	XP_016865456.1:p.Val3812Ala
XM_017009968.2:c.11531T>C	XP_016865457.1:p.Val3844Ala
XM_017009969.2:c.11531T>C	XP_016865458.1:p.Val3844Ala
XM_017009970.2:c.11531T>C	XP_016865459.1:p.Val3844Ala
XM_017009971.2:c.11531T>C	XP_016865460.1:p.Val3844Ala
XM_017009972.1:c.4649T>C	XP_016865461.1:p.Val1550Ala
XM_017009973.1:c.4628T>C	XP_016865462.1:p.Val1543Ala
NR_003149.2:n.11526T>C