Canonical Allele Identifier: CA2833165
Gene: CYTL1 HGNC NCBI
COSMIC:
COSM4159100 (not active)
MyVariant.info:
GRCh38 chr4:g.5015156G>A
GRCh37 chr4:g.5016883G>A
Revel Score:
ENST00000506508 0.055
ENST00000307746 (MANE Select) 0.151
gnomAD v2:
4:5016883 G / A
gnomAD v3:
4:5015156 G / A
gnomAD v4:
chr4-5015156-G-A
Joint Max Group AF 0.04266744 (SAS)
Genomes Max Group AF 0.03828985 (NFE)
Exomes Max Group AF 0.04294763 (SAS)
dbSNP:
11722554
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5015156G>A , CM000666.2:g.5015156G>A GRCh38
NC_000004.11:g.5016883G>A , CM000666.1:g.5016883G>A GRCh37
NC_000004.10:g.5067784G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000307746.9:c.406C>T MANE Select ENSP00000303550.4:p.Arg136Cys
ENST00000307746.8:c.406C>T ENSP00000303550.4:p.Arg136Cys
ENST00000506508.1:c.224C>T
ENST00000509419.1:c.273C>T
NM_018659.2:c.406C>T NP_061129.1:p.Arg136Cys
XR_925085.1:n.149-4767G>A
XR_925086.1:n.149-4767G>A
XR_925087.1:n.149-4767G>A
XM_017008299.1:c.*56C>T XP_016863788.1:n.*56C>T
NM_018659.3:c.406C>T MANE Select NP_061129.1:p.Arg136Cys
Search 100 bp 5'
Search 100 bp 3'