Canonical Allele Identifier: CA445407258

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90617938-T-C
• MyVariant Identifiers: chr5:g.89913755T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617938T>C , CM000667.2:g.90617938T>C	GRCh38
NC_000005.9:g.89913755T>C , CM000667.1:g.89913755T>C	GRCh37
NC_000005.8:g.89949511T>C	NCBI36
NG_007083.1:g.64139T>C
NG_007083.2:g.93595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.342T>C MANE Select	ENSP00000384582.2:p.Phe114=
ENST00000638316.1:n.552T>C
ENST00000638638.1:n.749T>C
ENST00000640083.1:n.47T>C
ENST00000640109.1:n.438T>C
ENST00000640281.1:n.401T>C
ENST00000405460.6:c.342T>C	ENSP00000384582.2:p.Phe114=
ENST00000508842.5:c.354T>C	ENSP00000425936.1:p.Phe118=
NM_032119.3:c.342T>C	NP_115495.3:p.Phe114=
NR_003149.1:n.438T>C
XM_011543675.1:c.342T>C	XP_011541977.1:p.Phe114=
XM_011543676.1:c.342T>C	XP_011541978.1:p.Phe114=
XM_011543678.1:c.342T>C	XP_011541980.1:p.Phe114=
XM_011543679.1:c.342T>C	XP_011541981.1:p.Phe114=
NM_032119.4:c.342T>C MANE Select	NP_115495.3:p.Phe114=
XM_017009963.2:c.342T>C	XP_016865452.1:p.Phe114=
XM_017009964.2:c.342T>C	XP_016865453.1:p.Phe114=
XM_017009965.1:c.339T>C	XP_016865454.1:p.Phe113=
XM_017009966.2:c.342T>C	XP_016865455.1:p.Phe114=
XM_017009967.1:c.342T>C	XP_016865456.1:p.Phe114=
XM_017009968.2:c.342T>C	XP_016865457.1:p.Phe114=
XM_017009969.2:c.342T>C	XP_016865458.1:p.Phe114=
XM_017009970.2:c.342T>C	XP_016865459.1:p.Phe114=
XM_017009971.2:c.342T>C	XP_016865460.1:p.Phe114=
XM_017009974.2:c.342T>C	XP_016865463.1:p.Phe114=
NR_003149.2:n.441T>C