Canonical Allele Identifier: CA266905097

Gene: RTL1 MIR127

Linked Data

• dbSNP Id: rs1013425200
• gnomAD v4: 14-100883026-G-C
• MyVariant Identifiers: chr14:g.101349363G>C (hg19) ; chr14:g.100883026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883026G>C , CM000676.2:g.100883026G>C	GRCh38
NC_000014.8:g.101349363G>C , CM000676.1:g.101349363G>C	GRCh37
NC_000014.7:g.100419116G>C	NCBI36
NG_045001.1:g.6822C>G
NG_045000.5:g.51758G>C
NG_045000.6:g.51758G>C
NG_045001.2:g.25697C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649591.1:c.1763C>G (RTL1) MANE Select	ENSP00000497482.1:p.Ser588Cys
ENST00000534062.1:c.1763C>G (RTL1)	ENSP00000435342.1:p.Ser588Cys
NM_001134888.2:c.1763C>G (RTL1)	NP_001128360.1:p.Ser588Cys
NR_029696.1:n.48G>C (MIR127)
NM_001134888.3:c.1763C>G (RTL1) MANE Select	NP_001128360.1:p.Ser588Cys