Canonical Allele Identifier: CA356273426
Gene: CYTL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2556149
ClinVar RCV Id: RCV003299948
gnomAD v4: 4-5015167-G-C
MyVariant Identifiers: chr4:g.5016894G>C (hg19) chr4:g.5015167G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5015167G>C , CM000666.2:g.5015167G>C GRCh38
NC_000004.11:g.5016894G>C , CM000666.1:g.5016894G>C GRCh37
NC_000004.10:g.5067795G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000307746.9:c.395C>G MANE Select ENSP00000303550.4:p.Pro132Arg
ENST00000307746.8:c.395C>G ENSP00000303550.4:p.Pro132Arg
ENST00000506508.1:c.213C>G
ENST00000509419.1:c.262C>G
NM_018659.2:c.395C>G NP_061129.1:p.Pro132Arg
XR_925085.1:n.149-4756G>C
XR_925086.1:n.149-4756G>C
XR_925087.1:n.149-4756G>C
XM_017008299.1:c.*45C>G XP_016863788.1:n.*45C>G
NM_018659.3:c.395C>G MANE Select NP_061129.1:p.Pro132Arg
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