Canonical Allele Identifier: CA374388535
Community Standard Title: NM_003640.5(ELP1):c.581A>G (p.His194Arg)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108919321T>C , CM000671.2:g.108919321T>C GRCh38
NC_000009.11:g.111681601T>C , CM000671.1:g.111681601T>C GRCh37
NC_000009.10:g.110721422T>C NCBI36
NG_008788.1:g.20008A>G , LRG_251:g.20008A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.581A>G MANE Select NP_003631.2:p.His194Arg
ENST00000374647.10:c.581A>G MANE Select ENSP00000363779.5:p.His194Arg
NM_001318360.1:c.239A>G NP_001305289.1:p.His80Arg
NM_001318360.2:c.239A>G NP_001305289.1:p.His80Arg
NM_001330749.1:c.-307-1651A>G NP_001317678.1:n.-307-1651A>G
NM_001330749.2:c.-307-1651A>G NP_001317678.1:n.-307-1651A>G
NM_003640.3:c.581A>G , LRG_251t1:c.581A>G NP_003631.2:p.His194Arg
NM_003640.4:c.581A>G NP_003631.2:p.His194Arg
ENST00000374647.9:c.581A>G ENSP00000363779.5:p.His194Arg
ENST00000495759.6:c.552+3521A>G ENSP00000433514.2:n.552+3521A>G
ENST00000537196.1:c.-307-1651A>G ENSP00000439367.1:n.-307-1651A>G
ENST00000674535.1:c.581A>G ENSP00000502142.1:p.His194Arg
ENST00000674704.1:n.897A>G
ENST00000674836.1:n.886A>G
ENST00000674890.1:c.581A>G ENSP00000501870.1:p.His194Arg
ENST00000674938.1:c.239A>G ENSP00000502427.1:p.His80Arg
ENST00000674948.1:c.239A>G ENSP00000501602.1:p.His80Arg
ENST00000675052.1:c.581A>G ENSP00000502664.1:p.His194Arg
ENST00000675078.1:c.581A>G ENSP00000501549.1:p.His194Arg
ENST00000675215.1:c.553-1651A>G ENSP00000502558.1:n.553-1651A>G
ENST00000675233.1:n.886A>G
ENST00000675321.1:c.581A>G ENSP00000502751.1:p.His194Arg
ENST00000675325.1:n.886A>G
ENST00000675335.1:c.581A>G ENSP00000502182.1:p.His194Arg
ENST00000675400.1:n.763A>G
ENST00000675406.1:c.581A>G ENSP00000501893.1:p.His194Arg
ENST00000675458.1:c.674A>G ENSP00000501754.1:n.674A>G
ENST00000675507.1:n.886A>G
ENST00000675535.1:c.581A>G ENSP00000501667.1:p.His194Arg
ENST00000675566.1:n.886A>G
ENST00000675602.1:n.889A>G
ENST00000675647.1:n.886A>G
ENST00000675711.1:c.581A>G ENSP00000502485.1:p.His194Arg
ENST00000675727.1:c.581A>G ENSP00000501722.1:p.His194Arg
ENST00000675748.1:n.724A>G
ENST00000675765.1:c.581A>G ENSP00000502640.1:p.His194Arg
ENST00000675825.1:c.581A>G ENSP00000502632.1:p.His194Arg
ENST00000675877.1:n.886A>G
ENST00000675893.1:c.*159A>G ENSP00000502001.1:n.*159A>G
ENST00000675943.1:n.886A>G
ENST00000675979.1:c.581A>G ENSP00000502208.1:p.His194Arg
ENST00000676044.1:c.581A>G ENSP00000502378.1:p.His194Arg
ENST00000676086.1:n.886A>G
ENST00000676121.1:n.918A>G
ENST00000676237.1:c.581A>G ENSP00000501828.1:p.His194Arg
ENST00000676416.1:c.239A>G ENSP00000501660.1:p.His80Arg
ENST00000676424.1:n.886A>G
ENST00000676429.1:n.3559A>G
XM_005252285.2:c.239A>G XP_005252342.1:p.His80Arg
XM_011519136.1:c.581A>G XP_011517438.1:p.His194Arg
XM_011519136.2:c.581A>G XP_011517438.1:p.His194Arg
XM_011519137.1:c.239A>G XP_011517439.1:p.His80Arg
XR_929859.1:n.897A>G
XR_929859.3:n.908A>G