Canonical Allele Identifier: CA3340977

Gene: ADGRV1

Linked Data

• dbSNP Id: rs754113093
• ExAC: 5:90050863 T / C
• gnomAD v2: 5-90050863-T-C
• gnomAD v4: 5-90755046-T-C
• MyVariant Identifiers: chr5:g.90050863T>C (hg19) ; chr5:g.90755046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755046T>C , CM000667.2:g.90755046T>C	GRCh38
NC_000005.9:g.90050863T>C , CM000667.1:g.90050863T>C	GRCh37
NC_000005.8:g.90086619T>C	NCBI36
NG_007083.1:g.201247T>C
NG_007083.2:g.230703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11441T>C MANE Select	ENSP00000384582.2:p.Ile3814Thr
ENST00000425867.3:c.572T>C	ENSP00000392618.3:p.Ile191Thr
ENST00000639431.1:c.265+78837T>C	ENSP00000491057.1:n.265+78837T>C
ENST00000640374.1:n.4585T>C
ENST00000640464.1:n.1860T>C
ENST00000405460.6:c.11441T>C	ENSP00000384582.2:p.Ile3814Thr
ENST00000509621.1:c.4138T>C
NM_032119.3:c.11441T>C	NP_115495.3:p.Ile3814Thr
NR_003149.1:n.11454T>C
XM_011543675.1:c.11438T>C	XP_011541977.1:p.Ile3813Thr
XM_011543676.1:c.11360T>C	XP_011541978.1:p.Ile3787Thr
XM_011543677.1:c.8744T>C	XP_011541979.1:p.Ile2915Thr
XM_011543678.1:c.11441T>C	XP_011541980.1:p.Ile3814Thr
NM_032119.4:c.11441T>C MANE Select	NP_115495.3:p.Ile3814Thr
XM_017009963.2:c.11462T>C	XP_016865452.1:p.Ile3821Thr
XM_017009964.2:c.11459T>C	XP_016865453.1:p.Ile3820Thr
XM_017009965.1:c.11459T>C	XP_016865454.1:p.Ile3820Thr
XM_017009966.2:c.11381T>C	XP_016865455.1:p.Ile3794Thr
XM_017009967.1:c.11366T>C	XP_016865456.1:p.Ile3789Thr
XM_017009968.2:c.11462T>C	XP_016865457.1:p.Ile3821Thr
XM_017009969.2:c.11462T>C	XP_016865458.1:p.Ile3821Thr
XM_017009970.2:c.11462T>C	XP_016865459.1:p.Ile3821Thr
XM_017009971.2:c.11462T>C	XP_016865460.1:p.Ile3821Thr
XM_017009972.1:c.4580T>C	XP_016865461.1:p.Ile1527Thr
XM_017009973.1:c.4559T>C	XP_016865462.1:p.Ile1520Thr
NR_003149.2:n.11457T>C