Canonical Allele Identifier: CA360377207

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059143T>A (hg19) ; chr5:g.90763326T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763326T>A , CM000667.2:g.90763326T>A	GRCh38
NC_000005.9:g.90059143T>A , CM000667.1:g.90059143T>A	GRCh37
NC_000005.8:g.90094899T>A	NCBI36
NG_007083.1:g.209527T>A
NG_007083.2:g.238983T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12142T>A MANE Select	ENSP00000384582.2:p.Ser4048Thr
ENST00000425867.3:c.1096T>A	ENSP00000392618.3:p.Ser366Thr
ENST00000639431.1:c.265+87117T>A	ENSP00000491057.1:n.265+87117T>A
ENST00000640464.1:n.2561T>A
ENST00000640729.1:n.719T>A
ENST00000405460.6:c.12142T>A	ENSP00000384582.2:p.Ser4048Thr
NM_032119.3:c.12142T>A	NP_115495.3:p.Ser4048Thr
NR_003149.1:n.12155T>A
XM_011543675.1:c.12139T>A	XP_011541977.1:p.Ser4047Thr
XM_011543676.1:c.12061T>A	XP_011541978.1:p.Ser4021Thr
XM_011543677.1:c.9445T>A	XP_011541979.1:p.Ser3149Thr
XM_011543678.1:c.12142T>A	XP_011541980.1:p.Ser4048Thr
NM_032119.4:c.12142T>A MANE Select	NP_115495.3:p.Ser4048Thr
XM_017009963.2:c.12163T>A	XP_016865452.1:p.Ser4055Thr
XM_017009964.2:c.12160T>A	XP_016865453.1:p.Ser4054Thr
XM_017009965.1:c.12160T>A	XP_016865454.1:p.Ser4054Thr
XM_017009966.2:c.12082T>A	XP_016865455.1:p.Ser4028Thr
XM_017009967.1:c.12067T>A	XP_016865456.1:p.Ser4023Thr
XM_017009968.2:c.12163T>A	XP_016865457.1:p.Ser4055Thr
XM_017009969.2:c.12163T>A	XP_016865458.1:p.Ser4055Thr
XM_017009970.2:c.12163T>A	XP_016865459.1:p.Ser4055Thr
XM_017009971.2:c.12163T>A	XP_016865460.1:p.Ser4055Thr
XM_017009972.1:c.5281T>A	XP_016865461.1:p.Ser1761Thr
XM_017009973.1:c.5260T>A	XP_016865462.1:p.Ser1754Thr
NR_003149.2:n.12158T>A