Canonical Allele Identifier: CA445404487

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692649-T-C
• MyVariant Identifiers: chr5:g.89988466T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692649T>C , CM000667.2:g.90692649T>C	GRCh38
NC_000005.9:g.89988466T>C , CM000667.1:g.89988466T>C	GRCh37
NC_000005.8:g.90024222T>C	NCBI36
NG_007083.1:g.138850T>C
NG_007083.2:g.168306T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6996T>C MANE Select	ENSP00000384582.2:p.Ile2332=
ENST00000639431.1:c.265+16440T>C	ENSP00000491057.1:n.265+16440T>C
ENST00000639473.1:n.2455T>C
ENST00000640012.1:c.803T>C
ENST00000640374.1:n.140T>C
ENST00000640403.1:c.4287T>C	ENSP00000492531.1:p.Ile1429=
ENST00000640779.1:c.1725T>C
ENST00000405460.6:c.6996T>C	ENSP00000384582.2:p.Ile2332=
NM_032119.3:c.6996T>C	NP_115495.3:p.Ile2332=
NR_003149.1:n.7009T>C
XM_011543675.1:c.6993T>C	XP_011541977.1:p.Ile2331=
XM_011543676.1:c.6915T>C	XP_011541978.1:p.Ile2305=
XM_011543677.1:c.4299T>C	XP_011541979.1:p.Ile1433=
XM_011543678.1:c.6996T>C	XP_011541980.1:p.Ile2332=
XM_011543679.1:c.6996T>C	XP_011541981.1:p.Ile2332=
NM_032119.4:c.6996T>C MANE Select	NP_115495.3:p.Ile2332=
XM_017009963.2:c.6996T>C	XP_016865452.1:p.Ile2332=
XM_017009964.2:c.6993T>C	XP_016865453.1:p.Ile2331=
XM_017009965.1:c.6993T>C	XP_016865454.1:p.Ile2331=
XM_017009966.2:c.6915T>C	XP_016865455.1:p.Ile2305=
XM_017009967.1:c.6900T>C	XP_016865456.1:p.Ile2300=
XM_017009968.2:c.6996T>C	XP_016865457.1:p.Ile2332=
XM_017009969.2:c.6996T>C	XP_016865458.1:p.Ile2332=
XM_017009970.2:c.6996T>C	XP_016865459.1:p.Ile2332=
XM_017009971.2:c.6996T>C	XP_016865460.1:p.Ile2332=
XM_017009972.1:c.114T>C	XP_016865461.1:p.Ile38=
XM_017009973.1:c.114T>C	XP_016865462.1:p.Ile38=
XM_017009974.2:c.6996T>C	XP_016865463.1:p.Ile2332=
NR_003149.2:n.7012T>C