Canonical Allele Identifier: CA360409186

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1754545430
• MyVariant Identifiers: chr5:g.90041506T>C (hg19) ; chr5:g.90745689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745689T>C , CM000667.2:g.90745689T>C	GRCh38
NC_000005.9:g.90041506T>C , CM000667.1:g.90041506T>C	GRCh37
NC_000005.8:g.90077262T>C	NCBI36
NG_007083.1:g.191890T>C
NG_007083.2:g.221346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10868T>C MANE Select	ENSP00000384582.2:p.Val3623Ala
ENST00000639431.1:c.265+69480T>C	ENSP00000491057.1:n.265+69480T>C
ENST00000640374.1:n.4012T>C
ENST00000640464.1:n.1287T>C
ENST00000405460.6:c.10868T>C	ENSP00000384582.2:p.Val3623Ala
ENST00000509621.1:c.3565T>C
NM_032119.3:c.10868T>C	NP_115495.3:p.Val3623Ala
NR_003149.1:n.10881T>C
XM_011543675.1:c.10865T>C	XP_011541977.1:p.Val3622Ala
XM_011543676.1:c.10787T>C	XP_011541978.1:p.Val3596Ala
XM_011543677.1:c.8171T>C	XP_011541979.1:p.Val2724Ala
XM_011543678.1:c.10868T>C	XP_011541980.1:p.Val3623Ala
NM_032119.4:c.10868T>C MANE Select	NP_115495.3:p.Val3623Ala
XM_017009963.2:c.10889T>C	XP_016865452.1:p.Val3630Ala
XM_017009964.2:c.10886T>C	XP_016865453.1:p.Val3629Ala
XM_017009965.1:c.10886T>C	XP_016865454.1:p.Val3629Ala
XM_017009966.2:c.10808T>C	XP_016865455.1:p.Val3603Ala
XM_017009967.1:c.10793T>C	XP_016865456.1:p.Val3598Ala
XM_017009968.2:c.10889T>C	XP_016865457.1:p.Val3630Ala
XM_017009969.2:c.10889T>C	XP_016865458.1:p.Val3630Ala
XM_017009970.2:c.10889T>C	XP_016865459.1:p.Val3630Ala
XM_017009971.2:c.10889T>C	XP_016865460.1:p.Val3630Ala
XM_017009972.1:c.4007T>C	XP_016865461.1:p.Val1336Ala
XM_017009973.1:c.3986T>C	XP_016865462.1:p.Val1329Ala
NR_003149.2:n.10884T>C