Canonical Allele Identifier: CA340015328

Gene: ELOVL1

Linked Data

• MyVariant Identifiers: chr1:g.43830117A>G (hg19) ; chr1:g.43364446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43364446A>G , CM000663.2:g.43364446A>G	GRCh38
NC_000001.10:g.43830117A>G , CM000663.1:g.43830117A>G	GRCh37
NC_000001.9:g.43602704A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372458.8:c.496T>C MANE Select	ENSP00000361536.3:p.Phe166Leu
ENST00000372458.7:c.496T>C	ENSP00000361536.3:p.Phe166Leu
ENST00000413844.3:c.415T>C	ENSP00000416024.2:p.Phe139Leu
ENST00000464204.5:n.530T>C
ENST00000468865.6:n.265T>C
ENST00000470769.5:n.830T>C
ENST00000470968.6:n.500+292T>C
ENST00000478481.5:n.465T>C
ENST00000482302.5:n.739T>C
ENST00000487209.5:n.404T>C
ENST00000497050.5:n.763T>C
ENST00000497569.5:n.564T>C
ENST00000621943.4:c.496T>C	ENSP00000477602.1:p.Phe166Leu
NM_001256399.1:c.496T>C	NP_001243328.1:p.Phe166Leu
NM_001256401.1:c.415T>C	NP_001243330.1:p.Phe139Leu
NM_001256402.1:c.253T>C	NP_001243331.1:p.Phe85Leu
NM_022821.3:c.496T>C	NP_073732.1:p.Phe166Leu
NR_046117.1:n.597T>C
NM_022821.4:c.496T>C MANE Select	NP_073732.1:p.Phe166Leu
NM_001256402.2:c.253T>C	NP_001243331.1:p.Phe85Leu
NR_046117.2:n.534T>C
NM_001256399.2:c.496T>C	NP_001243328.1:p.Phe166Leu
NM_001256401.2:c.415T>C	NP_001243330.1:p.Phe139Leu