Canonical Allele Identifier: CA2159074790

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883074T= , CM000676.2:g.100883074T= GRCh38
NC_000014.8:g.101349411T= , CM000676.1:g.101349411T= GRCh37
NC_000014.7:g.100419164T= NCBI36
NG_045001.1:g.6774A=
NG_045000.5:g.51806T=
NG_045000.6:g.51806T=
NG_045001.2:g.25649A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1715A= (RTL1) MANE Select ENSP00000497482.1:p.Asp572=
ENST00000534062.1:c.1715A= (RTL1) ENSP00000435342.1:p.Asp572=
NM_001134888.2:c.1715A= (RTL1) NP_001128360.1:p.Asp572=
NR_029696.1:n.96T= (MIR127)
NM_001134888.3:c.1715A= (RTL1) MANE Select NP_001128360.1:p.Asp572=