Canonical Allele Identifier: CA356273421
Gene: CYTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5015164T>A , CM000666.2:g.5015164T>A GRCh38
NC_000004.11:g.5016891T>A , CM000666.1:g.5016891T>A GRCh37
NC_000004.10:g.5067792T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000307746.9:c.398A>T MANE Select ENSP00000303550.4:p.Asp133Val
ENST00000307746.8:c.398A>T ENSP00000303550.4:p.Asp133Val
ENST00000506508.1:c.216A>T
ENST00000509419.1:c.265A>T
NM_018659.2:c.398A>T NP_061129.1:p.Asp133Val
XR_925085.1:n.149-4759T>A
XR_925086.1:n.149-4759T>A
XR_925087.1:n.149-4759T>A
XM_017008299.1:c.*48A>T XP_016863788.1:n.*48A>T
NM_018659.3:c.398A>T MANE Select NP_061129.1:p.Asp133Val