Canonical Allele Identifier: CA390995539

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883057G>T , CM000676.2:g.100883057G>T GRCh38
NC_000014.8:g.101349394G>T , CM000676.1:g.101349394G>T GRCh37
NC_000014.7:g.100419147G>T NCBI36
NG_045001.1:g.6791C>A
NG_045000.5:g.51789G>T
NG_045000.6:g.51789G>T
NG_045001.2:g.25666C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1732C>A (RTL1) MANE Select ENSP00000497482.1:p.Gln578Lys
ENST00000534062.1:c.1732C>A (RTL1) ENSP00000435342.1:p.Gln578Lys
NM_001134888.2:c.1732C>A (RTL1) NP_001128360.1:p.Gln578Lys
NR_029696.1:n.79G>T (MIR127)
NM_001134888.3:c.1732C>A (RTL1) MANE Select NP_001128360.1:p.Gln578Lys