Canonical Allele Identifier: CA390994751
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs2038636036
gnomAD v3: 14-100882713-C-G
gnomAD v4: 14-100882713-C-G
MyVariant Identifiers: chr14:g.101349050C>G (hg19) chr14:g.100882713C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882713C>G , CM000676.2:g.100882713C>G GRCh38
NC_000014.8:g.101349050C>G , CM000676.1:g.101349050C>G GRCh37
NC_000014.7:g.100418803C>G NCBI36
NG_045001.1:g.7135G>C
NG_045000.5:g.51445C>G
NG_045000.6:g.51445C>G
NG_045001.2:g.26010G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2076G>C MANE Select ENSP00000497482.1:p.Leu692Phe
ENST00000534062.1:c.2076G>C ENSP00000435342.1:p.Leu692Phe
NM_001134888.2:c.2076G>C NP_001128360.1:p.Leu692Phe
NM_001134888.3:c.2076G>C MANE Select NP_001128360.1:p.Leu692Phe
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