Canonical Allele Identifier: CA2159074907
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883160G= , CM000676.2:g.100883160G= GRCh38
NC_000014.8:g.101349497G= , CM000676.1:g.101349497G= GRCh37
NC_000014.7:g.100419250G= NCBI36
NG_045001.1:g.6688C=
NG_045000.5:g.51892G=
NG_045000.6:g.51892G=
NG_045001.2:g.25563C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1629C= MANE Select ENSP00000497482.1:p.Ala543=
ENST00000534062.1:c.1629C= ENSP00000435342.1:p.Ala543=
NM_001134888.2:c.1629C= NP_001128360.1:p.Ala543=
NM_001134888.3:c.1629C= MANE Select NP_001128360.1:p.Ala543=