Canonical Allele Identifier: CA360409051

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041475A>C (hg19) ; chr5:g.90745658A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745658A>C , CM000667.2:g.90745658A>C	GRCh38
NC_000005.9:g.90041475A>C , CM000667.1:g.90041475A>C	GRCh37
NC_000005.8:g.90077231A>C	NCBI36
NG_007083.1:g.191859A>C
NG_007083.2:g.221315A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10837A>C MANE Select	ENSP00000384582.2:p.Thr3613Pro
ENST00000639431.1:c.265+69449A>C	ENSP00000491057.1:n.265+69449A>C
ENST00000640374.1:n.3981A>C
ENST00000640464.1:n.1256A>C
ENST00000405460.6:c.10837A>C	ENSP00000384582.2:p.Thr3613Pro
ENST00000509621.1:c.3534A>C
NM_032119.3:c.10837A>C	NP_115495.3:p.Thr3613Pro
NR_003149.1:n.10850A>C
XM_011543675.1:c.10834A>C	XP_011541977.1:p.Thr3612Pro
XM_011543676.1:c.10756A>C	XP_011541978.1:p.Thr3586Pro
XM_011543677.1:c.8140A>C	XP_011541979.1:p.Thr2714Pro
XM_011543678.1:c.10837A>C	XP_011541980.1:p.Thr3613Pro
XM_011543679.1:c.*59A>C	XP_011541981.1:n.*59A>C
NM_032119.4:c.10837A>C MANE Select	NP_115495.3:p.Thr3613Pro
XM_017009963.2:c.10858A>C	XP_016865452.1:p.Thr3620Pro
XM_017009964.2:c.10855A>C	XP_016865453.1:p.Thr3619Pro
XM_017009965.1:c.10855A>C	XP_016865454.1:p.Thr3619Pro
XM_017009966.2:c.10777A>C	XP_016865455.1:p.Thr3593Pro
XM_017009967.1:c.10762A>C	XP_016865456.1:p.Thr3588Pro
XM_017009968.2:c.10858A>C	XP_016865457.1:p.Thr3620Pro
XM_017009969.2:c.10858A>C	XP_016865458.1:p.Thr3620Pro
XM_017009970.2:c.10858A>C	XP_016865459.1:p.Thr3620Pro
XM_017009971.2:c.10858A>C	XP_016865460.1:p.Thr3620Pro
XM_017009972.1:c.3976A>C	XP_016865461.1:p.Thr1326Pro
XM_017009973.1:c.3955A>C	XP_016865462.1:p.Thr1319Pro
XM_017009974.2:c.*59A>C	XP_016865463.1:n.*59A>C
NR_003149.2:n.10853A>C