Canonical Allele Identifier: CA360414222

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89979884T>G (hg19) ; chr5:g.90684067T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684067T>G , CM000667.2:g.90684067T>G	GRCh38
NC_000005.9:g.89979884T>G , CM000667.1:g.89979884T>G	GRCh37
NC_000005.8:g.90015640T>G	NCBI36
NG_007083.1:g.130268T>G
NG_007083.2:g.159724T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6146T>G MANE Select	ENSP00000384582.2:p.Phe2049Cys
ENST00000639431.1:c.265+7858T>G	ENSP00000491057.1:n.265+7858T>G
ENST00000639473.1:n.1605T>G
ENST00000640012.1:c.165-1713T>G
ENST00000640403.1:c.3437T>G	ENSP00000492531.1:p.Phe1146Cys
ENST00000640779.1:c.958T>G
ENST00000405460.6:c.6146T>G	ENSP00000384582.2:p.Phe2049Cys
NM_032119.3:c.6146T>G	NP_115495.3:p.Phe2049Cys
NR_003149.1:n.6242T>G
XM_011543675.1:c.6143T>G	XP_011541977.1:p.Phe2048Cys
XM_011543676.1:c.6065T>G	XP_011541978.1:p.Phe2022Cys
XM_011543677.1:c.3449T>G	XP_011541979.1:p.Phe1150Cys
XM_011543678.1:c.6146T>G	XP_011541980.1:p.Phe2049Cys
XM_011543679.1:c.6146T>G	XP_011541981.1:p.Phe2049Cys
NM_032119.4:c.6146T>G MANE Select	NP_115495.3:p.Phe2049Cys
XM_017009963.2:c.6146T>G	XP_016865452.1:p.Phe2049Cys
XM_017009964.2:c.6143T>G	XP_016865453.1:p.Phe2048Cys
XM_017009965.1:c.6143T>G	XP_016865454.1:p.Phe2048Cys
XM_017009966.2:c.6065T>G	XP_016865455.1:p.Phe2022Cys
XM_017009967.1:c.6050T>G	XP_016865456.1:p.Phe2017Cys
XM_017009968.2:c.6146T>G	XP_016865457.1:p.Phe2049Cys
XM_017009969.2:c.6146T>G	XP_016865458.1:p.Phe2049Cys
XM_017009970.2:c.6146T>G	XP_016865459.1:p.Phe2049Cys
XM_017009971.2:c.6146T>G	XP_016865460.1:p.Phe2049Cys
XM_017009973.1:c.-654T>G	XP_016865462.1:n.-654T>G
XM_017009974.2:c.6146T>G	XP_016865463.1:p.Phe2049Cys
NR_003149.2:n.6245T>G