Canonical Allele Identifier: CA266905903
Gene: RTL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2614284
ClinVar RCV Id: RCV004356603
dbSNP Id: rs1017661200
gnomAD v2: 14-101349856-C-T
gnomAD v3: 14-100883519-C-T
gnomAD v4: 14-100883519-C-T
MyVariant Identifiers: chr14:g.101349856C>T (hg19) chr14:g.100883519C>T (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883519C>T , CM000676.2:g.100883519C>T GRCh38
NC_000014.8:g.101349856C>T , CM000676.1:g.101349856C>T GRCh37
NC_000014.7:g.100419609C>T NCBI36
NG_045001.1:g.6329G>A
NG_045000.5:g.52251C>T
NG_045000.6:g.52251C>T
NG_045001.2:g.25204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1270G>A MANE Select ENSP00000497482.1:p.Ala424Thr
ENST00000534062.1:c.1270G>A ENSP00000435342.1:p.Ala424Thr
NM_001134888.2:c.1270G>A NP_001128360.1:p.Ala424Thr
NM_001134888.3:c.1270G>A MANE Select NP_001128360.1:p.Ala424Thr
Search 100 bp 5'
Search 100 bp 3'