Canonical Allele Identifier: CA390994738
Gene: RTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882708A>G , CM000676.2:g.100882708A>G GRCh38
NC_000014.8:g.101349045A>G , CM000676.1:g.101349045A>G GRCh37
NC_000014.7:g.100418798A>G NCBI36
NG_045001.1:g.7140T>C
NG_045000.5:g.51440A>G
NG_045000.6:g.51440A>G
NG_045001.2:g.26015T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2081T>C MANE Select ENSP00000497482.1:p.Leu694Pro
ENST00000534062.1:c.2081T>C ENSP00000435342.1:p.Leu694Pro
NM_001134888.2:c.2081T>C NP_001128360.1:p.Leu694Pro
NM_001134888.3:c.2081T>C MANE Select NP_001128360.1:p.Leu694Pro