Canonical Allele Identifier: CA209214824
Gene: SUPV3L1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69197036A>G , CM000672.2:g.69197036A>G GRCh38
NC_000010.10:g.70956792A>G , CM000672.1:g.70956792A>G GRCh37
NC_000010.9:g.70626798A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359655.9:c.976A>G MANE Select ENSP00000352678.4:p.Ile326Val
ENST00000359655.8:c.976A>G ENSP00000352678.4:p.Ile326Val
ENST00000422378.1:c.394A>G ENSP00000409072.1:p.Ile132Val
ENST00000478227.5:n.553A>G
NM_001301683.1:c.583A>G NP_001288612.1:p.Ile195Val
NM_003171.4:c.976A>G NP_003162.2:p.Ile326Val
XM_011540106.1:c.583A>G XP_011538408.1:p.Ile195Val
XM_011540107.1:c.976A>G XP_011538409.1:p.Ile326Val
NM_001323584.1:c.583A>G NP_001310513.1:p.Ile195Val
NM_001323585.1:c.613A>G NP_001310514.1:p.Ile205Val
NM_001323586.1:c.613A>G NP_001310515.1:p.Ile205Val
NM_001323587.1:c.-12A>G NP_001310516.1:n.-12A>G
NM_001323588.1:c.-12A>G NP_001310517.1:n.-12A>G
NR_136626.1:n.1064A>G
NR_136627.1:n.1199A>G
NM_003171.5:c.976A>G MANE Select NP_003162.2:p.Ile326Val
NM_001301683.2:c.583A>G NP_001288612.1:p.Ile195Val
NM_001323584.2:c.583A>G NP_001310513.1:p.Ile195Val
NM_001323585.2:c.613A>G NP_001310514.1:p.Ile205Val
NM_001323586.2:c.613A>G NP_001310515.1:p.Ile205Val
NM_001323587.2:c.-12A>G NP_001310516.1:n.-12A>G
NM_001323588.2:c.-12A>G NP_001310517.1:n.-12A>G
NR_136626.2:n.1034A>G
NR_136627.2:n.1169A>G