Canonical Allele Identifier: CA390995405

Gene: RTL1 MIR127

Linked Data

• MyVariant Identifiers: chr14:g.101349336T>A (hg19) ; chr14:g.100882999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100882999T>A , CM000676.2:g.100882999T>A	GRCh38
NC_000014.8:g.101349336T>A , CM000676.1:g.101349336T>A	GRCh37
NC_000014.7:g.100419089T>A	NCBI36
NG_045001.1:g.6849A>T
NG_045000.5:g.51731T>A
NG_045000.6:g.51731T>A
NG_045001.2:g.25724A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1790A>T (RTL1) MANE Select	ENSP00000497482.1:p.Gln597Leu
ENST00000534062.1:c.1790A>T (RTL1)	ENSP00000435342.1:p.Gln597Leu
NM_001134888.2:c.1790A>T (RTL1)	NP_001128360.1:p.Gln597Leu
NR_029696.1:n.21T>A (MIR127)
NM_001134888.3:c.1790A>T (RTL1) MANE Select	NP_001128360.1:p.Gln597Leu