Canonical Allele Identifier: CA7347282
Gene: RTL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1206198
ClinVar RCV Id: RCV001573521
dbSNP Id: rs41286560

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883117G>T , CM000676.2:g.100883117G>T GRCh38
NC_000014.8:g.101349454G>T , CM000676.1:g.101349454G>T GRCh37
NC_000014.7:g.100419207G>T NCBI36
NG_045001.1:g.6731C>A
NG_045000.5:g.51849G>T
NG_045000.6:g.51849G>T
NG_045001.2:g.25606C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000649591.1:c.1672C>A MANE Select ENSP00000497482.1:p.Pro558Thr
ENST00000534062.1:c.1672C>A ENSP00000435342.1:p.Pro558Thr
NM_001134888.2:c.1672C>A NP_001128360.1:p.Pro558Thr
NM_001134888.3:c.1672C>A MANE Select NP_001128360.1:p.Pro558Thr