Canonical Allele Identifier: CA21623628

Gene: ELOVL1

Linked Data

• dbSNP Id: rs187826081
• gnomAD v2: 1-43829338-T-G
• gnomAD v3: 1-43363667-T-G
• gnomAD v4: 1-43363667-T-G
• MyVariant Identifiers: chr1:g.43829338T>G (hg19) ; chr1:g.43363667T>G (hg38)

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