Canonical Allele Identifier: CA360377254

Gene: ADGRV1

Linked Data

• COSMIC: COSM5403993
• MyVariant Identifiers: chr5:g.90059147C>T (hg19) ; chr5:g.90763330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763330C>T , CM000667.2:g.90763330C>T	GRCh38
NC_000005.9:g.90059147C>T , CM000667.1:g.90059147C>T	GRCh37
NC_000005.8:g.90094903C>T	NCBI36
NG_007083.1:g.209531C>T
NG_007083.2:g.238987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12146C>T MANE Select	ENSP00000384582.2:p.Ser4049Phe
ENST00000425867.3:c.1100C>T	ENSP00000392618.3:p.Ser367Phe
ENST00000639431.1:c.265+87121C>T	ENSP00000491057.1:n.265+87121C>T
ENST00000640464.1:n.2565C>T
ENST00000640729.1:n.723C>T
ENST00000405460.6:c.12146C>T	ENSP00000384582.2:p.Ser4049Phe
NM_032119.3:c.12146C>T	NP_115495.3:p.Ser4049Phe
NR_003149.1:n.12159C>T
XM_011543675.1:c.12143C>T	XP_011541977.1:p.Ser4048Phe
XM_011543676.1:c.12065C>T	XP_011541978.1:p.Ser4022Phe
XM_011543677.1:c.9449C>T	XP_011541979.1:p.Ser3150Phe
XM_011543678.1:c.12146C>T	XP_011541980.1:p.Ser4049Phe
NM_032119.4:c.12146C>T MANE Select	NP_115495.3:p.Ser4049Phe
XM_017009963.2:c.12167C>T	XP_016865452.1:p.Ser4056Phe
XM_017009964.2:c.12164C>T	XP_016865453.1:p.Ser4055Phe
XM_017009965.1:c.12164C>T	XP_016865454.1:p.Ser4055Phe
XM_017009966.2:c.12086C>T	XP_016865455.1:p.Ser4029Phe
XM_017009967.1:c.12071C>T	XP_016865456.1:p.Ser4024Phe
XM_017009968.2:c.12167C>T	XP_016865457.1:p.Ser4056Phe
XM_017009969.2:c.12167C>T	XP_016865458.1:p.Ser4056Phe
XM_017009970.2:c.12167C>T	XP_016865459.1:p.Ser4056Phe
XM_017009971.2:c.12167C>T	XP_016865460.1:p.Ser4056Phe
XM_017009972.1:c.5285C>T	XP_016865461.1:p.Ser1762Phe
XM_017009973.1:c.5264C>T	XP_016865462.1:p.Ser1755Phe
NR_003149.2:n.12162C>T