Canonical Allele Identifier: CA390995989
Gene: RTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883264G>C , CM000676.2:g.100883264G>C GRCh38
NC_000014.8:g.101349601G>C , CM000676.1:g.101349601G>C GRCh37
NC_000014.7:g.100419354G>C NCBI36
NG_045001.1:g.6584C>G
NG_045000.5:g.51996G>C
NG_045000.6:g.51996G>C
NG_045001.2:g.25459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1525C>G MANE Select ENSP00000497482.1:p.Leu509Val
ENST00000534062.1:c.1525C>G ENSP00000435342.1:p.Leu509Val
NM_001134888.2:c.1525C>G NP_001128360.1:p.Leu509Val
NM_001134888.3:c.1525C>G MANE Select NP_001128360.1:p.Leu509Val