Canonical Allele Identifier: CA182198
Community Standard Title: NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90805383G>A , CM000667.2:g.90805383G>A GRCh38
NC_000005.9:g.90101200G>A , CM000667.1:g.90101200G>A GRCh37
NC_000005.8:g.90136956G>A NCBI36
NG_007083.1:g.251584G>A
NG_007083.2:g.281040G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14761G>A MANE Select NP_115495.3:p.Ala4921Thr
ENST00000405460.9:c.14761G>A MANE Select ENSP00000384582.2:p.Ala4921Thr
NM_032119.3:c.14761G>A NP_115495.3:p.Ala4921Thr
NR_003149.1:n.14774G>A
NR_003149.2:n.14777G>A
ENST00000405460.6:c.14761G>A ENSP00000384582.2:p.Ala4921Thr
ENST00000425867.2:c.1744G>A ENSP00000392618.2:p.Ala582Thr
ENST00000425867.3:c.3715G>A ENSP00000392618.3:p.Ala1239Thr
ENST00000513828.1:n.457G>A
ENST00000638510.1:n.2028G>A
ENST00000638585.1:n.427+2501G>A
ENST00000639431.1:c.265+129174G>A ENSP00000491057.1:n.265+129174G>A
ENST00000640407.1:c.1171G>A ENSP00000491425.1:p.Ala391Thr
XM_011543675.1:c.14758G>A XP_011541977.1:p.Ala4920Thr
XM_011543676.1:c.14680G>A XP_011541978.1:p.Ala4894Thr
XM_011543677.1:c.12064G>A XP_011541979.1:p.Ala4022Thr
XM_011543678.1:c.14761G>A XP_011541980.1:p.Ala4921Thr
XM_017009963.2:c.14782G>A XP_016865452.1:p.Ala4928Thr
XM_017009964.2:c.14779G>A XP_016865453.1:p.Ala4927Thr
XM_017009965.1:c.14779G>A XP_016865454.1:p.Ala4927Thr
XM_017009966.2:c.14701G>A XP_016865455.1:p.Ala4901Thr
XM_017009967.1:c.14686G>A XP_016865456.1:p.Ala4896Thr
XM_017009968.2:c.14683-2219G>A XP_016865457.1:n.14683-2219G>A
XM_017009969.2:c.14782G>A XP_016865458.1:p.Ala4928Thr
XM_017009970.2:c.14782G>A XP_016865459.1:p.Ala4928Thr
XM_017009971.2:c.14683-2219G>A XP_016865460.1:n.14683-2219G>A
XM_017009972.1:c.7900G>A XP_016865461.1:p.Ala2634Thr
XM_017009973.1:c.7879G>A XP_016865462.1:p.Ala2627Thr