Canonical Allele Identifier: CA360425700

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90119373A>C (hg19) ; chr5:g.90823556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823556A>C , CM000667.2:g.90823556A>C	GRCh38
NC_000005.9:g.90119373A>C , CM000667.1:g.90119373A>C	GRCh37
NC_000005.8:g.90155129A>C	NCBI36
NG_007083.1:g.269757A>C
NG_007083.2:g.299213A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16328A>C MANE Select	ENSP00000384582.2:p.Gln5443Pro
ENST00000425867.3:c.5282A>C	ENSP00000392618.3:p.Gln1761Pro
ENST00000638510.1:n.3595A>C
ENST00000639431.1:c.265+147347A>C	ENSP00000491057.1:n.265+147347A>C
ENST00000640061.1:n.128+1374A>C
ENST00000640407.1:c.2738A>C	ENSP00000491425.1:p.Gln913Pro
ENST00000405460.6:c.16328A>C	ENSP00000384582.2:p.Gln5443Pro
ENST00000425867.2:c.3311A>C	ENSP00000392618.2:p.Gln1104Pro
NM_032119.3:c.16328A>C	NP_115495.3:p.Gln5443Pro
NR_003149.1:n.16341A>C
XM_011543675.1:c.16325A>C	XP_011541977.1:p.Gln5442Pro
XM_011543676.1:c.16247A>C	XP_011541978.1:p.Gln5416Pro
XM_011543677.1:c.13631A>C	XP_011541979.1:p.Gln4544Pro
NM_032119.4:c.16328A>C MANE Select	NP_115495.3:p.Gln5443Pro
XM_017009963.2:c.16349A>C	XP_016865452.1:p.Gln5450Pro
XM_017009964.2:c.16346A>C	XP_016865453.1:p.Gln5449Pro
XM_017009965.1:c.16346A>C	XP_016865454.1:p.Gln5449Pro
XM_017009966.2:c.16268A>C	XP_016865455.1:p.Gln5423Pro
XM_017009967.1:c.16253A>C	XP_016865456.1:p.Gln5418Pro
XM_017009968.2:c.16169A>C	XP_016865457.1:p.Gln5390Pro
XM_017009969.2:c.16349A>C	XP_016865458.1:p.Gln5450Pro
XM_017009972.1:c.9467A>C	XP_016865461.1:p.Gln3156Pro
XM_017009973.1:c.9446A>C	XP_016865462.1:p.Gln3149Pro
NR_003149.2:n.16344A>C