Canonical Allele Identifier: CA5530409
Gene: SUPV3L1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69180377G>A , CM000672.2:g.69180377G>A GRCh38
NC_000010.10:g.70940133G>A , CM000672.1:g.70940133G>A GRCh37
NC_000010.9:g.70610139G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359655.9:c.86G>A MANE Select ENSP00000352678.4:p.Arg29His
ENST00000359655.8:c.86G>A ENSP00000352678.4:p.Arg29His
ENST00000422378.1:c.86G>A ENSP00000409072.1:p.Arg29His
ENST00000471069.5:n.128G>A
ENST00000483572.5:n.97G>A
NM_001301683.1:c.-443G>A NP_001288612.1:n.-443G>A
NM_003171.4:c.86G>A NP_003162.2:p.Arg29His
XM_011540106.1:c.-356G>A XP_011538408.1:n.-356G>A
XM_011540107.1:c.86G>A XP_011538409.1:p.Arg29His
NM_001323584.1:c.-356G>A NP_001310513.1:n.-356G>A
NM_001323585.1:c.-486G>A NP_001310514.1:n.-486G>A
NM_001323586.1:c.-351G>A NP_001310515.1:n.-351G>A
NM_001323587.1:c.-824G>A NP_001310516.1:n.-824G>A
NM_001323588.1:c.-872G>A NP_001310517.1:n.-872G>A
NR_136626.1:n.174G>A
NR_136627.1:n.174G>A
NM_003171.5:c.86G>A MANE Select NP_003162.2:p.Arg29His
NM_001301683.2:c.-443G>A NP_001288612.1:n.-443G>A
NM_001323584.2:c.-356G>A NP_001310513.1:n.-356G>A
NM_001323585.2:c.-486G>A NP_001310514.1:n.-486G>A
NM_001323586.2:c.-351G>A NP_001310515.1:n.-351G>A
NM_001323587.2:c.-824G>A NP_001310516.1:n.-824G>A
NM_001323588.2:c.-872G>A NP_001310517.1:n.-872G>A
NR_136626.2:n.144G>A
NR_136627.2:n.144G>A