Canonical Allele Identifier: CA5174313

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108880088G>A , CM000671.2:g.108880088G>A	GRCh38
NC_000009.11:g.111642368G>A , CM000671.1:g.111642368G>A	GRCh37
NC_000009.10:g.110682189G>A	NCBI36
NG_008788.1:g.59241C>T , LRG_251:g.59241C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3424C>T MANE Select	NP_003631.2:p.Arg1142Ter
ENST00000374647.10:c.3424C>T MANE Select	ENSP00000363779.5:p.Arg1142Ter
NM_001318360.1:c.3082C>T	NP_001305289.1:p.Arg1028Ter
NM_001318360.2:c.3082C>T	NP_001305289.1:p.Arg1028Ter
NM_001330749.1:c.2377C>T	NP_001317678.1:p.Arg793Ter
NM_001330749.2:c.2377C>T	NP_001317678.1:p.Arg793Ter
NM_003640.3:c.3424C>T , LRG_251t1:c.3424C>T	NP_003631.2:p.Arg1142Ter
NM_003640.4:c.3424C>T	NP_003631.2:p.Arg1142Ter
ENST00000374647.9:c.3424C>T	ENSP00000363779.5:p.Arg1142Ter
ENST00000467959.1:n.304C>T
ENST00000495759.5:c.564C>T
ENST00000495759.6:c.*2034C>T	ENSP00000433514.2:n.*2034C>T
ENST00000537196.1:c.2377C>T	ENSP00000439367.1:p.Arg793Ter
ENST00000674535.1:c.3424C>T	ENSP00000502142.1:p.Arg1142Ter
ENST00000674704.1:n.6509C>T
ENST00000674740.1:n.307C>T
ENST00000674836.1:n.4037C>T
ENST00000674890.1:c.*659C>T	ENSP00000501870.1:n.*659C>T
ENST00000674938.1:c.3082C>T	ENSP00000502427.1:p.Arg1028Ter
ENST00000674948.1:c.3082C>T	ENSP00000501602.1:p.Arg1028Ter
ENST00000675052.1:c.3424C>T	ENSP00000502664.1:p.Arg1142Ter
ENST00000675062.1:n.470C>T
ENST00000675078.1:c.3424C>T	ENSP00000501549.1:p.Arg1142Ter
ENST00000675215.1:c.*2648C>T	ENSP00000502558.1:n.*2648C>T
ENST00000675233.1:n.5251C>T
ENST00000675321.1:c.3424C>T	ENSP00000502751.1:p.Arg1142Ter
ENST00000675325.1:n.5381C>T
ENST00000675335.1:c.3455C>T	ENSP00000502182.1:n.3455C>T
ENST00000675400.1:n.5276C>T
ENST00000675406.1:c.3424C>T	ENSP00000501893.1:p.Arg1142Ter
ENST00000675458.1:c.3517C>T	ENSP00000501754.1:n.3517C>T
ENST00000675507.1:n.5220C>T
ENST00000675535.1:c.*1051C>T	ENSP00000501667.1:n.*1051C>T
ENST00000675566.1:n.5282C>T
ENST00000675580.1:n.577C>T
ENST00000675602.1:n.6472C>T
ENST00000675647.1:n.4588C>T
ENST00000675711.1:c.3541C>T	ENSP00000502485.1:n.3541C>T
ENST00000675727.1:c.3424C>T	ENSP00000501722.1:p.Arg1142Ter
ENST00000675748.1:n.5058C>T
ENST00000675765.1:c.*807C>T	ENSP00000502640.1:n.*807C>T
ENST00000675825.1:c.3466C>T	ENSP00000502632.1:p.Arg1156Ter
ENST00000675877.1:n.5268C>T
ENST00000675893.1:c.*4493C>T	ENSP00000502001.1:n.*4493C>T
ENST00000675943.1:n.7039C>T
ENST00000675979.1:c.*2667C>T	ENSP00000502208.1:n.*2667C>T
ENST00000676044.1:c.*1084C>T	ENSP00000502378.1:n.*1084C>T
ENST00000676086.1:n.5209C>T
ENST00000676121.1:n.5252C>T
ENST00000676162.1:n.153C>T
ENST00000676237.1:c.3367C>T	ENSP00000501828.1:p.Arg1123Ter
ENST00000676416.1:c.3124C>T	ENSP00000501660.1:p.Arg1042Ter
ENST00000676424.1:n.5262C>T
ENST00000676429.1:n.7893C>T
XM_005252285.2:c.3082C>T	XP_005252342.1:p.Arg1028Ter
XM_011519136.1:c.3466C>T	XP_011517438.1:p.Arg1156Ter
XM_011519136.2:c.3466C>T	XP_011517438.1:p.Arg1156Ter
XM_011519137.1:c.3124C>T	XP_011517439.1:p.Arg1042Ter
XR_929859.3:n.3813C>T