Canonical Allele Identifier: CA376911563
Gene: SUPV3L1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69208646C>G , CM000672.2:g.69208646C>G GRCh38
NC_000010.10:g.70968402C>G , CM000672.1:g.70968402C>G GRCh37
NC_000010.9:g.70638408C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359655.9:c.1972C>G MANE Select ENSP00000352678.4:p.Leu658Val
ENST00000359655.8:c.1972C>G ENSP00000352678.4:p.Leu658Val
ENST00000497254.1:n.213C>G
NM_001301683.1:c.1579C>G NP_001288612.1:p.Leu527Val
NM_003171.4:c.1972C>G NP_003162.2:p.Leu658Val
XM_011540106.1:c.1579C>G XP_011538408.1:p.Leu527Val
NM_001323584.1:c.1579C>G NP_001310513.1:p.Leu527Val
NM_001323585.1:c.1609C>G NP_001310514.1:p.Leu537Val
NM_001323586.1:c.1609C>G NP_001310515.1:p.Leu537Val
NM_001323587.1:c.985C>G NP_001310516.1:p.Leu329Val
NM_001323588.1:c.985C>G NP_001310517.1:p.Leu329Val
NR_136626.1:n.1984C>G
NR_136627.1:n.2119C>G
NM_003171.5:c.1972C>G MANE Select NP_003162.2:p.Leu658Val
NM_001301683.2:c.1579C>G NP_001288612.1:p.Leu527Val
NM_001323584.2:c.1579C>G NP_001310513.1:p.Leu527Val
NM_001323585.2:c.1609C>G NP_001310514.1:p.Leu537Val
NM_001323586.2:c.1609C>G NP_001310515.1:p.Leu537Val
NM_001323587.2:c.985C>G NP_001310516.1:p.Leu329Val
NM_001323588.2:c.985C>G NP_001310517.1:p.Leu329Val
NR_136626.2:n.1954C>G
NR_136627.2:n.2089C>G