Canonical Allele Identifier: CA390995122
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349211T>A (hg19) chr14:g.100882874T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882874T>A , CM000676.2:g.100882874T>A GRCh38
NC_000014.8:g.101349211T>A , CM000676.1:g.101349211T>A GRCh37
NC_000014.7:g.100418964T>A NCBI36
NG_045001.1:g.6974A>T
NG_045000.5:g.51606T>A
NG_045000.6:g.51606T>A
NG_045001.2:g.25849A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1915A>T MANE Select ENSP00000497482.1:p.Met639Leu
ENST00000534062.1:c.1915A>T ENSP00000435342.1:p.Met639Leu
NM_001134888.2:c.1915A>T NP_001128360.1:p.Met639Leu
NM_001134888.3:c.1915A>T MANE Select NP_001128360.1:p.Met639Leu
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