Canonical Allele Identifier: CA374413138
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108881729T>C , CM000671.2:g.108881729T>C GRCh38
NC_000009.11:g.111644009T>C , CM000671.1:g.111644009T>C GRCh37
NC_000009.10:g.110683830T>C NCBI36
NG_008788.1:g.57600A>G , LRG_251:g.57600A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374647.10:c.3322A>G MANE Select ENSP00000363779.5:p.Asn1108Asp
ENST00000495759.6:c.*1932A>G ENSP00000433514.2:n.*1932A>G
ENST00000674535.1:c.3322A>G ENSP00000502142.1:p.Asn1108Asp
ENST00000674704.1:n.6407A>G
ENST00000674740.1:n.205A>G
ENST00000674836.1:n.3935A>G
ENST00000674890.1:c.*557A>G ENSP00000501870.1:n.*557A>G
ENST00000674938.1:c.2980A>G ENSP00000502427.1:p.Asn994Asp
ENST00000674948.1:c.2980A>G ENSP00000501602.1:p.Asn994Asp
ENST00000675052.1:c.3322A>G ENSP00000502664.1:p.Asn1108Asp
ENST00000675078.1:c.3322A>G ENSP00000501549.1:p.Asn1108Asp
ENST00000675215.1:c.*2546A>G ENSP00000502558.1:n.*2546A>G
ENST00000675233.1:n.5149A>G
ENST00000675321.1:c.3322A>G ENSP00000502751.1:p.Asn1108Asp
ENST00000675325.1:n.5279A>G
ENST00000675335.1:c.3353A>G ENSP00000502182.1:n.3353A>G
ENST00000675400.1:n.5174A>G
ENST00000675406.1:c.3322A>G ENSP00000501893.1:p.Asn1108Asp
ENST00000675458.1:c.3415A>G ENSP00000501754.1:n.3415A>G
ENST00000675507.1:n.5118A>G
ENST00000675535.1:c.*949A>G ENSP00000501667.1:n.*949A>G
ENST00000675566.1:n.5180A>G
ENST00000675580.1:n.475A>G
ENST00000675602.1:n.6370A>G
ENST00000675647.1:n.4486A>G
ENST00000675711.1:c.3439A>G ENSP00000502485.1:n.3439A>G
ENST00000675727.1:c.3322A>G ENSP00000501722.1:p.Asn1108Asp
ENST00000675748.1:n.4956A>G
ENST00000675765.1:c.*705A>G ENSP00000502640.1:n.*705A>G
ENST00000675825.1:c.3322A>G ENSP00000502632.1:p.Asn1108Asp
ENST00000675877.1:n.3627A>G
ENST00000675893.1:c.*4391A>G ENSP00000502001.1:n.*4391A>G
ENST00000675943.1:n.6937A>G
ENST00000675979.1:c.*2565A>G ENSP00000502208.1:n.*2565A>G
ENST00000676044.1:c.*982A>G ENSP00000502378.1:n.*982A>G
ENST00000676086.1:n.5107A>G
ENST00000676121.1:n.5150A>G
ENST00000676237.1:c.3223A>G ENSP00000501828.1:p.Asn1075Asp
ENST00000676416.1:c.2980A>G ENSP00000501660.1:p.Asn994Asp
ENST00000676424.1:n.5118A>G
ENST00000676429.1:n.7791A>G
ENST00000374647.9:c.3322A>G ENSP00000363779.5:p.Asn1108Asp
ENST00000467959.1:n.202A>G
ENST00000495759.5:c.462A>G
ENST00000537196.1:c.2275A>G ENSP00000439367.1:p.Asn759Asp
NM_003640.3:c.3322A>G , LRG_251t1:c.3322A>G NP_003631.2:p.Asn1108Asp
XM_005252285.2:c.2980A>G XP_005252342.1:p.Asn994Asp
XM_011519136.1:c.3322A>G XP_011517438.1:p.Asn1108Asp
XM_011519137.1:c.2980A>G XP_011517439.1:p.Asn994Asp
NM_001318360.1:c.2980A>G NP_001305289.1:p.Asn994Asp
NM_001330749.1:c.2275A>G NP_001317678.1:p.Asn759Asp
NM_003640.4:c.3322A>G NP_003631.2:p.Asn1108Asp
XM_011519136.2:c.3322A>G XP_011517438.1:p.Asn1108Asp
XR_929859.3:n.3711A>G
NM_003640.5:c.3322A>G MANE Select NP_003631.2:p.Asn1108Asp
NM_001318360.2:c.2980A>G NP_001305289.1:p.Asn994Asp
NM_001330749.2:c.2275A>G NP_001317678.1:p.Asn759Asp