Canonical Allele Identifier: CA390995105
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1304976351

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882867G>A , CM000676.2:g.100882867G>A GRCh38
NC_000014.8:g.101349204G>A , CM000676.1:g.101349204G>A GRCh37
NC_000014.7:g.100418957G>A NCBI36
NG_045001.1:g.6981C>T
NG_045000.5:g.51599G>A
NG_045000.6:g.51599G>A
NG_045001.2:g.25856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1922C>T MANE Select ENSP00000497482.1:p.Thr641Ile
ENST00000534062.1:c.1922C>T ENSP00000435342.1:p.Thr641Ile
NM_001134888.2:c.1922C>T NP_001128360.1:p.Thr641Ile
NM_001134888.3:c.1922C>T MANE Select NP_001128360.1:p.Thr641Ile