Canonical Allele Identifier: CA1871345944
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108917568G= , CM000671.2:g.108917568G= GRCh38
NC_000009.11:g.111679848G= , CM000671.1:g.111679848G= GRCh37
NC_000009.10:g.110719669G= NCBI36
NG_008788.1:g.21761C= , LRG_251:g.21761C=

Transcript Alleles

HGVS Amino-acid change
ENST00000374647.10:c.843C= MANE Select ENSP00000363779.5:p.Pro281=
ENST00000495759.6:c.552+5274C= ENSP00000433514.2:n.552+5274C=
ENST00000674535.1:c.843C= ENSP00000502142.1:p.Pro281=
ENST00000674704.1:n.2650C=
ENST00000674836.1:n.1148C=
ENST00000674890.1:c.843C= ENSP00000501870.1:p.Pro281=
ENST00000674938.1:c.501C= ENSP00000502427.1:p.Pro167=
ENST00000674948.1:c.501C= ENSP00000501602.1:p.Pro167=
ENST00000675052.1:c.843C= ENSP00000502664.1:p.Pro281=
ENST00000675078.1:c.843C= ENSP00000501549.1:p.Pro281=
ENST00000675215.1:c.*67C= ENSP00000502558.1:n.*67C=
ENST00000675233.1:n.2639C=
ENST00000675321.1:c.843C= ENSP00000502751.1:p.Pro281=
ENST00000675325.1:n.2639C=
ENST00000675335.1:c.843C= ENSP00000502182.1:p.Pro281=
ENST00000675400.1:n.2516C=
ENST00000675406.1:c.843C= ENSP00000501893.1:p.Pro281=
ENST00000675458.1:c.936C= ENSP00000501754.1:n.936C=
ENST00000675507.1:n.2639C=
ENST00000675535.1:c.843C= ENSP00000501667.1:p.Pro281=
ENST00000675566.1:n.2639C=
ENST00000675602.1:n.2642C=
ENST00000675647.1:n.1148C=
ENST00000675711.1:c.843C= ENSP00000502485.1:p.Pro281=
ENST00000675727.1:c.843C= ENSP00000501722.1:p.Pro281=
ENST00000675748.1:n.2477C=
ENST00000675765.1:c.843C= ENSP00000502640.1:p.Pro281=
ENST00000675825.1:c.843C= ENSP00000502632.1:p.Pro281=
ENST00000675877.1:n.1148C=
ENST00000675893.1:c.*1912C= ENSP00000502001.1:n.*1912C=
ENST00000675943.1:n.2639C=
ENST00000675979.1:c.*86C= ENSP00000502208.1:n.*86C=
ENST00000676044.1:c.843C= ENSP00000502378.1:p.Pro281=
ENST00000676086.1:n.2639C=
ENST00000676121.1:n.2671C=
ENST00000676237.1:c.744C= ENSP00000501828.1:p.Pro248=
ENST00000676416.1:c.501C= ENSP00000501660.1:p.Pro167=
ENST00000676424.1:n.2639C=
ENST00000676429.1:n.5312C=
ENST00000374647.9:c.843C= ENSP00000363779.5:p.Pro281=
ENST00000537196.1:c.-205C= ENSP00000439367.1:n.-205C=
NM_003640.3:c.843C= , LRG_251t1:c.843C= NP_003631.2:p.Pro281=
XM_005252285.2:c.501C= XP_005252342.1:p.Pro167=
XM_011519136.1:c.843C= XP_011517438.1:p.Pro281=
XM_011519137.1:c.501C= XP_011517439.1:p.Pro167=
XR_929859.1:n.1159C=
NM_001318360.1:c.501C= NP_001305289.1:p.Pro167=
NM_001330749.1:c.-205C= NP_001317678.1:n.-205C=
NM_003640.4:c.843C= NP_003631.2:p.Pro281=
XM_011519136.2:c.843C= XP_011517438.1:p.Pro281=
XR_929859.3:n.1170C=
NM_003640.5:c.843C= MANE Select NP_003631.2:p.Pro281=
NM_001318360.2:c.501C= NP_001305289.1:p.Pro167=
NM_001330749.2:c.-205C= NP_001317678.1:n.-205C=