Canonical Allele Identifier: CA122805719
Community Standard Title: NM_032119.4(ADGRV1):c.16450G>A (p.Ala5484Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90829025G>A , CM000667.2:g.90829025G>A GRCh38
NC_000005.9:g.90124842G>A , CM000667.1:g.90124842G>A GRCh37
NC_000005.8:g.90160598G>A NCBI36
NG_007083.1:g.275226G>A
NG_007083.2:g.304682G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.16450G>A MANE Select NP_115495.3:p.Ala5484Thr
ENST00000405460.9:c.16450G>A MANE Select ENSP00000384582.2:p.Ala5484Thr
NM_032119.3:c.16450G>A NP_115495.3:p.Ala5484Thr
NR_003149.1:n.16463G>A
NR_003149.2:n.16466G>A
ENST00000405460.6:c.16450G>A ENSP00000384582.2:p.Ala5484Thr
ENST00000425867.2:c.3433G>A ENSP00000392618.2:p.Ala1145Thr
ENST00000425867.3:c.5404G>A ENSP00000392618.3:p.Ala1802Thr
ENST00000638510.1:n.3717G>A
ENST00000639431.1:c.265+152816G>A ENSP00000491057.1:n.265+152816G>A
ENST00000640061.1:n.128+6843G>A
ENST00000640407.1:c.2899G>A ENSP00000491425.1:n.2899G>A
XM_011543675.1:c.16447G>A XP_011541977.1:p.Ala5483Thr
XM_011543676.1:c.16369G>A XP_011541978.1:p.Ala5457Thr
XM_011543677.1:c.13753G>A XP_011541979.1:p.Ala4585Thr
XM_017009963.2:c.16471G>A XP_016865452.1:p.Ala5491Thr
XM_017009964.2:c.16468G>A XP_016865453.1:p.Ala5490Thr
XM_017009965.1:c.16468G>A XP_016865454.1:p.Ala5490Thr
XM_017009966.2:c.16390G>A XP_016865455.1:p.Ala5464Thr
XM_017009967.1:c.16375G>A XP_016865456.1:p.Ala5459Thr
XM_017009968.2:c.16291G>A XP_016865457.1:p.Ala5431Thr
XM_017009969.2:c.16471G>A XP_016865458.1:p.Ala5491Thr
XM_017009972.1:c.9589G>A XP_016865461.1:p.Ala3197Thr
XM_017009973.1:c.9568G>A XP_016865462.1:p.Ala3190Thr