Canonical Allele Identifier: CA5174526
Gene: ELP1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108893978C>T , CM000671.2:g.108893978C>T GRCh38
NC_000009.11:g.111656258C>T , CM000671.1:g.111656258C>T GRCh37
NC_000009.10:g.110696079C>T NCBI36
NG_008788.1:g.45351G>A , LRG_251:g.45351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374647.10:c.2825G>A MANE Select ENSP00000363779.5:p.Arg942Gln
ENST00000495759.6:c.*1435G>A ENSP00000433514.2:n.*1435G>A
ENST00000674535.1:c.2825G>A ENSP00000502142.1:p.Arg942Gln
ENST00000674704.1:n.5910G>A
ENST00000674836.1:n.3438G>A
ENST00000674890.1:c.*60G>A ENSP00000501870.1:n.*60G>A
ENST00000674938.1:c.2483G>A ENSP00000502427.1:p.Arg828Gln
ENST00000674948.1:c.2483G>A ENSP00000501602.1:p.Arg828Gln
ENST00000675052.1:c.2825G>A ENSP00000502664.1:p.Arg942Gln
ENST00000675078.1:c.2825G>A ENSP00000501549.1:p.Arg942Gln
ENST00000675215.1:c.*2049G>A ENSP00000502558.1:n.*2049G>A
ENST00000675233.1:n.4652G>A
ENST00000675321.1:c.2825G>A ENSP00000502751.1:p.Arg942Gln
ENST00000675325.1:n.4782G>A
ENST00000675335.1:c.2856G>A ENSP00000502182.1:n.2856G>A
ENST00000675400.1:n.4560G>A
ENST00000675406.1:c.2825G>A ENSP00000501893.1:p.Arg942Gln
ENST00000675458.1:c.2918G>A ENSP00000501754.1:n.2918G>A
ENST00000675507.1:n.4621G>A
ENST00000675535.1:c.*452G>A ENSP00000501667.1:n.*452G>A
ENST00000675566.1:n.4683G>A
ENST00000675602.1:n.5873G>A
ENST00000675647.1:n.3130G>A
ENST00000675711.1:c.2825G>A ENSP00000502485.1:p.Arg942Gln
ENST00000675727.1:c.2825G>A ENSP00000501722.1:p.Arg942Gln
ENST00000675748.1:n.4459G>A
ENST00000675765.1:c.*208G>A ENSP00000502640.1:n.*208G>A
ENST00000675825.1:c.2825G>A ENSP00000502632.1:p.Arg942Gln
ENST00000675877.1:n.3130G>A
ENST00000675893.1:c.*3894G>A ENSP00000502001.1:n.*3894G>A
ENST00000675943.1:n.6440G>A
ENST00000675979.1:c.*2068G>A ENSP00000502208.1:n.*2068G>A
ENST00000676044.1:c.*485G>A ENSP00000502378.1:n.*485G>A
ENST00000676086.1:n.4610G>A
ENST00000676121.1:n.4653G>A
ENST00000676237.1:c.2726G>A ENSP00000501828.1:p.Arg909Gln
ENST00000676416.1:c.2483G>A ENSP00000501660.1:p.Arg828Gln
ENST00000676424.1:n.4621G>A
ENST00000676429.1:n.7294G>A
ENST00000374647.9:c.2825G>A ENSP00000363779.5:p.Arg942Gln
ENST00000537196.1:c.1778G>A ENSP00000439367.1:p.Arg593Gln
NM_003640.3:c.2825G>A , LRG_251t1:c.2825G>A NP_003631.2:p.Arg942Gln
XM_005252285.2:c.2483G>A XP_005252342.1:p.Arg828Gln
XM_011519136.1:c.2825G>A XP_011517438.1:p.Arg942Gln
XM_011519137.1:c.2483G>A XP_011517439.1:p.Arg828Gln
XR_929859.1:n.3203G>A
NM_001318360.1:c.2483G>A NP_001305289.1:p.Arg828Gln
NM_001330749.1:c.1778G>A NP_001317678.1:p.Arg593Gln
NM_003640.4:c.2825G>A NP_003631.2:p.Arg942Gln
XM_011519136.2:c.2825G>A XP_011517438.1:p.Arg942Gln
XR_929859.3:n.3214G>A
NM_003640.5:c.2825G>A MANE Select NP_003631.2:p.Arg942Gln
NM_001318360.2:c.2483G>A NP_001305289.1:p.Arg828Gln
NM_001330749.2:c.1778G>A NP_001317678.1:p.Arg593Gln