Canonical Allele Identifier: CA340015323

Gene: ELOVL1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43364444G>T , CM000663.2:g.43364444G>T	GRCh38
NC_000001.10:g.43830115G>T , CM000663.1:g.43830115G>T	GRCh37
NC_000001.9:g.43602702G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372458.8:c.498C>A MANE Select	ENSP00000361536.3:p.Phe166Leu
ENST00000372458.7:c.498C>A	ENSP00000361536.3:p.Phe166Leu
ENST00000413844.3:c.417C>A	ENSP00000416024.2:p.Phe139Leu
ENST00000464204.5:n.532C>A
ENST00000468865.6:n.267C>A
ENST00000470769.5:n.832C>A
ENST00000470968.6:n.500+294C>A
ENST00000478481.5:n.467C>A
ENST00000482302.5:n.741C>A
ENST00000487209.5:n.406C>A
ENST00000497050.5:n.765C>A
ENST00000497569.5:n.566C>A
ENST00000621943.4:c.498C>A	ENSP00000477602.1:p.Phe166Leu
NM_001256399.1:c.498C>A	NP_001243328.1:p.Phe166Leu
NM_001256401.1:c.417C>A	NP_001243330.1:p.Phe139Leu
NM_001256402.1:c.255C>A	NP_001243331.1:p.Phe85Leu
NM_022821.3:c.498C>A	NP_073732.1:p.Phe166Leu
NR_046117.1:n.599C>A
NM_022821.4:c.498C>A MANE Select	NP_073732.1:p.Phe166Leu
NM_001256402.2:c.255C>A	NP_001243331.1:p.Phe85Leu
NR_046117.2:n.536C>A
NM_001256399.2:c.498C>A	NP_001243328.1:p.Phe166Leu
NM_001256401.2:c.417C>A	NP_001243330.1:p.Phe139Leu