Canonical Allele Identifier: CA390995111
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs2038638751

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882870A>C , CM000676.2:g.100882870A>C GRCh38
NC_000014.8:g.101349207A>C , CM000676.1:g.101349207A>C GRCh37
NC_000014.7:g.100418960A>C NCBI36
NG_045001.1:g.6978T>G
NG_045000.5:g.51602A>C
NG_045000.6:g.51602A>C
NG_045001.2:g.25853T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1919T>G MANE Select ENSP00000497482.1:p.Leu640Arg
ENST00000534062.1:c.1919T>G ENSP00000435342.1:p.Leu640Arg
NM_001134888.2:c.1919T>G NP_001128360.1:p.Leu640Arg
NM_001134888.3:c.1919T>G MANE Select NP_001128360.1:p.Leu640Arg