Canonical Allele Identifier: CA390995984
Gene: RTL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3156873
ClinVar RCV Id: RCV004454735

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883261G>C , CM000676.2:g.100883261G>C GRCh38
NC_000014.8:g.101349598G>C , CM000676.1:g.101349598G>C GRCh37
NC_000014.7:g.100419351G>C NCBI36
NG_045001.1:g.6587C>G
NG_045000.5:g.51993G>C
NG_045000.6:g.51993G>C
NG_045001.2:g.25462C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1528C>G MANE Select ENSP00000497482.1:p.Arg510Gly
ENST00000534062.1:c.1528C>G ENSP00000435342.1:p.Arg510Gly
NM_001134888.2:c.1528C>G NP_001128360.1:p.Arg510Gly
NM_001134888.3:c.1528C>G MANE Select NP_001128360.1:p.Arg510Gly