Canonical Allele Identifier: CA1871337786
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108900303C= , CM000671.2:g.108900303C= GRCh38
NC_000009.11:g.111662583C= , CM000671.1:g.111662583C= GRCh37
NC_000009.10:g.110702404C= NCBI36
NG_008788.1:g.39026G= , LRG_251:g.39026G=

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2087G= MANE Select NP_003631.2:p.Arg696=
ENST00000374647.10:c.2087G= MANE Select ENSP00000363779.5:p.Arg696=
NM_001318360.1:c.1745G= NP_001305289.1:p.Arg582=
NM_001318360.2:c.1745G= NP_001305289.1:p.Arg582=
NM_001330749.1:c.1040G= NP_001317678.1:p.Arg347=
NM_001330749.2:c.1040G= NP_001317678.1:p.Arg347=
NM_003640.3:c.2087G= , LRG_251t1:c.2087G= NP_003631.2:p.Arg696=
NM_003640.4:c.2087G= NP_003631.2:p.Arg696=
ENST00000374647.9:c.2087G= ENSP00000363779.5:p.Arg696=
ENST00000495759.6:c.*697G= ENSP00000433514.2:n.*697G=
ENST00000537196.1:c.1040G= ENSP00000439367.1:p.Arg347=
ENST00000674535.1:c.2087G= ENSP00000502142.1:p.Arg696=
ENST00000674704.1:n.3894G=
ENST00000674836.1:n.2392G=
ENST00000674890.1:c.2087G= ENSP00000501870.1:p.Arg696=
ENST00000674938.1:c.1745G= ENSP00000502427.1:p.Arg582=
ENST00000674948.1:c.1745G= ENSP00000501602.1:p.Arg582=
ENST00000675052.1:c.2087G= ENSP00000502664.1:p.Arg696=
ENST00000675078.1:c.2087G= ENSP00000501549.1:p.Arg696=
ENST00000675215.1:c.*1311G= ENSP00000502558.1:n.*1311G=
ENST00000675233.1:n.3914G=
ENST00000675321.1:c.2087G= ENSP00000502751.1:p.Arg696=
ENST00000675325.1:n.3883G=
ENST00000675335.1:c.2118G= ENSP00000502182.1:n.2118G=
ENST00000675400.1:n.3760G=
ENST00000675406.1:c.2087G= ENSP00000501893.1:p.Arg696=
ENST00000675458.1:c.2180G= ENSP00000501754.1:n.2180G=
ENST00000675507.1:n.3883G=
ENST00000675535.1:c.2087G= ENSP00000501667.1:p.Arg696=
ENST00000675566.1:n.3883G=
ENST00000675602.1:n.5135G=
ENST00000675647.1:n.2392G=
ENST00000675711.1:c.2087G= ENSP00000502485.1:p.Arg696=
ENST00000675727.1:c.2087G= ENSP00000501722.1:p.Arg696=
ENST00000675748.1:n.3721G=
ENST00000675765.1:c.2087G= ENSP00000502640.1:p.Arg696=
ENST00000675825.1:c.2087G= ENSP00000502632.1:p.Arg696=
ENST00000675877.1:n.2392G=
ENST00000675893.1:c.*3156G= ENSP00000502001.1:n.*3156G=
ENST00000675943.1:n.5702G=
ENST00000675979.1:c.*1330G= ENSP00000502208.1:n.*1330G=
ENST00000676044.1:c.2087G= ENSP00000502378.1:p.Arg696=
ENST00000676086.1:n.3872G=
ENST00000676121.1:n.3915G=
ENST00000676237.1:c.1988G= ENSP00000501828.1:p.Arg663=
ENST00000676416.1:c.1745G= ENSP00000501660.1:p.Arg582=
ENST00000676424.1:n.3883G=
ENST00000676429.1:n.6556G=
XM_005252285.2:c.1745G= XP_005252342.1:p.Arg582=
XM_011519136.1:c.2087G= XP_011517438.1:p.Arg696=
XM_011519136.2:c.2087G= XP_011517438.1:p.Arg696=
XM_011519137.1:c.1745G= XP_011517439.1:p.Arg582=
XR_929859.1:n.2403G=
XR_929859.3:n.2414G=