Canonical Allele Identifier: CA360414220

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89979883T>C (hg19) ; chr5:g.90684066T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684066T>C , CM000667.2:g.90684066T>C	GRCh38
NC_000005.9:g.89979883T>C , CM000667.1:g.89979883T>C	GRCh37
NC_000005.8:g.90015639T>C	NCBI36
NG_007083.1:g.130267T>C
NG_007083.2:g.159723T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6145T>C MANE Select	ENSP00000384582.2:p.Phe2049Leu
ENST00000639431.1:c.265+7857T>C	ENSP00000491057.1:n.265+7857T>C
ENST00000639473.1:n.1604T>C
ENST00000640012.1:c.165-1714T>C
ENST00000640403.1:c.3436T>C	ENSP00000492531.1:p.Phe1146Leu
ENST00000640779.1:c.957T>C
ENST00000405460.6:c.6145T>C	ENSP00000384582.2:p.Phe2049Leu
NM_032119.3:c.6145T>C	NP_115495.3:p.Phe2049Leu
NR_003149.1:n.6241T>C
XM_011543675.1:c.6142T>C	XP_011541977.1:p.Phe2048Leu
XM_011543676.1:c.6064T>C	XP_011541978.1:p.Phe2022Leu
XM_011543677.1:c.3448T>C	XP_011541979.1:p.Phe1150Leu
XM_011543678.1:c.6145T>C	XP_011541980.1:p.Phe2049Leu
XM_011543679.1:c.6145T>C	XP_011541981.1:p.Phe2049Leu
NM_032119.4:c.6145T>C MANE Select	NP_115495.3:p.Phe2049Leu
XM_017009963.2:c.6145T>C	XP_016865452.1:p.Phe2049Leu
XM_017009964.2:c.6142T>C	XP_016865453.1:p.Phe2048Leu
XM_017009965.1:c.6142T>C	XP_016865454.1:p.Phe2048Leu
XM_017009966.2:c.6064T>C	XP_016865455.1:p.Phe2022Leu
XM_017009967.1:c.6049T>C	XP_016865456.1:p.Phe2017Leu
XM_017009968.2:c.6145T>C	XP_016865457.1:p.Phe2049Leu
XM_017009969.2:c.6145T>C	XP_016865458.1:p.Phe2049Leu
XM_017009970.2:c.6145T>C	XP_016865459.1:p.Phe2049Leu
XM_017009971.2:c.6145T>C	XP_016865460.1:p.Phe2049Leu
XM_017009973.1:c.-655T>C	XP_016865462.1:n.-655T>C
XM_017009974.2:c.6145T>C	XP_016865463.1:p.Phe2049Leu
NR_003149.2:n.6244T>C