Canonical Allele Identifier: CA488181245
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349044A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882707A>C , CM000676.2:g.100882707A>C GRCh38
NC_000014.8:g.101349044A>C , CM000676.1:g.101349044A>C GRCh37
NC_000014.7:g.100418797A>C NCBI36
NG_045001.1:g.7141T>G
NG_045000.5:g.51439A>C
NG_045000.6:g.51439A>C
NG_045001.2:g.26016T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2082T>G MANE Select ENSP00000497482.1:p.Leu694=
ENST00000534062.1:c.2082T>G ENSP00000435342.1:p.Leu694=
NM_001134888.2:c.2082T>G NP_001128360.1:p.Leu694=
NM_001134888.3:c.2082T>G MANE Select NP_001128360.1:p.Leu694=
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