Canonical Allele Identifier: CA1871334999
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108893997T= , CM000671.2:g.108893997T= GRCh38
NC_000009.11:g.111656277T= , CM000671.1:g.111656277T= GRCh37
NC_000009.10:g.110696098T= NCBI36
NG_008788.1:g.45332A= , LRG_251:g.45332A=

Transcript Alleles

HGVS Amino-acid change
ENST00000374647.10:c.2806A= MANE Select ENSP00000363779.5:p.Ile936=
ENST00000495759.6:c.*1416A= ENSP00000433514.2:n.*1416A=
ENST00000674535.1:c.2806A= ENSP00000502142.1:p.Ile936=
ENST00000674704.1:n.5891A=
ENST00000674836.1:n.3419A=
ENST00000674890.1:c.*41A= ENSP00000501870.1:n.*41A=
ENST00000674938.1:c.2464A= ENSP00000502427.1:p.Ile822=
ENST00000674948.1:c.2464A= ENSP00000501602.1:p.Ile822=
ENST00000675052.1:c.2806A= ENSP00000502664.1:p.Ile936=
ENST00000675078.1:c.2806A= ENSP00000501549.1:p.Ile936=
ENST00000675215.1:c.*2030A= ENSP00000502558.1:n.*2030A=
ENST00000675233.1:n.4633A=
ENST00000675321.1:c.2806A= ENSP00000502751.1:p.Ile936=
ENST00000675325.1:n.4763A=
ENST00000675335.1:c.2837A= ENSP00000502182.1:n.2837A=
ENST00000675400.1:n.4541A=
ENST00000675406.1:c.2806A= ENSP00000501893.1:p.Ile936=
ENST00000675458.1:c.2899A= ENSP00000501754.1:n.2899A=
ENST00000675507.1:n.4602A=
ENST00000675535.1:c.*433A= ENSP00000501667.1:n.*433A=
ENST00000675566.1:n.4664A=
ENST00000675602.1:n.5854A=
ENST00000675647.1:n.3111A=
ENST00000675711.1:c.2806A= ENSP00000502485.1:p.Ile936=
ENST00000675727.1:c.2806A= ENSP00000501722.1:p.Ile936=
ENST00000675748.1:n.4440A=
ENST00000675765.1:c.*189A= ENSP00000502640.1:n.*189A=
ENST00000675825.1:c.2806A= ENSP00000502632.1:p.Ile936=
ENST00000675877.1:n.3111A=
ENST00000675893.1:c.*3875A= ENSP00000502001.1:n.*3875A=
ENST00000675943.1:n.6421A=
ENST00000675979.1:c.*2049A= ENSP00000502208.1:n.*2049A=
ENST00000676044.1:c.*466A= ENSP00000502378.1:n.*466A=
ENST00000676086.1:n.4591A=
ENST00000676121.1:n.4634A=
ENST00000676237.1:c.2707A= ENSP00000501828.1:p.Ile903=
ENST00000676416.1:c.2464A= ENSP00000501660.1:p.Ile822=
ENST00000676424.1:n.4602A=
ENST00000676429.1:n.7275A=
ENST00000374647.9:c.2806A= ENSP00000363779.5:p.Ile936=
ENST00000537196.1:c.1759A= ENSP00000439367.1:p.Ile587=
NM_003640.3:c.2806A= , LRG_251t1:c.2806A= NP_003631.2:p.Ile936=
XM_005252285.2:c.2464A= XP_005252342.1:p.Ile822=
XM_011519136.1:c.2806A= XP_011517438.1:p.Ile936=
XM_011519137.1:c.2464A= XP_011517439.1:p.Ile822=
XR_929859.1:n.3184A=
NM_001318360.1:c.2464A= NP_001305289.1:p.Ile822=
NM_001330749.1:c.1759A= NP_001317678.1:p.Ile587=
NM_003640.4:c.2806A= NP_003631.2:p.Ile936=
XM_011519136.2:c.2806A= XP_011517438.1:p.Ile936=
XR_929859.3:n.3195A=
NM_003640.5:c.2806A= MANE Select NP_003631.2:p.Ile936=
NM_001318360.2:c.2464A= NP_001305289.1:p.Ile822=
NM_001330749.2:c.1759A= NP_001317678.1:p.Ile587=