Canonical Allele Identifier: CA21623628
Gene: ELOVL1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43363667T>G
GRCh37 chr1:g.43829338T>G
gnomAD v2:
1:43829338 T / G
gnomAD v3:
1:43363667 T / G
gnomAD v4:
chr1-43363667-T-G
Joint Max Group AF 0.00247306 (AFR)
Genomes Max Group AF 0.00266703 (AFR)
Exomes Max Group AF 0.00125964 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43363667T>G , CM000663.2:g.43363667T>G GRCh38
NC_000001.10:g.43829338T>G , CM000663.1:g.43829338T>G GRCh37
NC_000001.9:g.43601925T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372458.8:c.*249A>C MANE Select ENSP00000361536.3:n.*249A>C
ENST00000372458.7:c.*249A>C ENSP00000361536.3:n.*249A>C
ENST00000413844.3:c.*249A>C ENSP00000416024.2:n.*249A>C
ENST00000621943.4:c.*249A>C ENSP00000477602.1:n.*249A>C
NM_001256399.1:c.*249A>C NP_001243328.1:n.*249A>C
NM_001256401.1:c.*249A>C NP_001243330.1:n.*249A>C
NM_001256402.1:c.*249A>C NP_001243331.1:n.*249A>C
NM_022821.3:c.*249A>C NP_073732.1:n.*249A>C
NR_046117.1:n.1190A>C
NM_022821.4:c.*249A>C MANE Select NP_073732.1:n.*249A>C
NM_001256402.2:c.*249A>C NP_001243331.1:n.*249A>C
NR_046117.2:n.1127A>C
NM_001256399.2:c.*249A>C NP_001243328.1:n.*249A>C
NM_001256401.2:c.*249A>C NP_001243330.1:n.*249A>C
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