Canonical Allele Identifier: CA2571545276
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108879813G>T , CM000671.2:g.108879813G>T GRCh38
NC_000009.11:g.111642093G>T , CM000671.1:g.111642093G>T GRCh37
NC_000009.10:g.110681914G>T NCBI36
NG_008788.1:g.59516C>A , LRG_251:g.59516C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374647.10:c.3460+239C>A MANE Select ENSP00000363779.5:n.3460+239C>A
ENST00000495759.6:c.*2070+239C>A ENSP00000433514.2:n.*2070+239C>A
ENST00000674535.1:c.3460+239C>A ENSP00000502142.1:n.3460+239C>A
ENST00000674704.1:n.6545+239C>A
ENST00000674740.1:n.343+239C>A
ENST00000674836.1:n.4073+239C>A
ENST00000674890.1:c.*695+239C>A ENSP00000501870.1:n.*695+239C>A
ENST00000674938.1:c.3118+239C>A ENSP00000502427.1:n.3118+239C>A
ENST00000674948.1:c.3118+239C>A ENSP00000501602.1:n.3118+239C>A
ENST00000675052.1:c.3460+239C>A ENSP00000502664.1:n.3460+239C>A
ENST00000675062.1:n.506+239C>A
ENST00000675078.1:c.3460+239C>A ENSP00000501549.1:n.3460+239C>A
ENST00000675215.1:c.*2684+239C>A ENSP00000502558.1:n.*2684+239C>A
ENST00000675233.1:n.5287+239C>A
ENST00000675321.1:c.3460+239C>A ENSP00000502751.1:n.3460+239C>A
ENST00000675325.1:n.5417+239C>A
ENST00000675335.1:c.3491+239C>A ENSP00000502182.1:n.3491+239C>A
ENST00000675400.1:n.5312+239C>A
ENST00000675406.1:c.3460+239C>A ENSP00000501893.1:n.3460+239C>A
ENST00000675458.1:c.3553+239C>A ENSP00000501754.1:n.3553+239C>A
ENST00000675507.1:n.5256+239C>A
ENST00000675535.1:c.*1087+239C>A ENSP00000501667.1:n.*1087+239C>A
ENST00000675566.1:n.5318+239C>A
ENST00000675580.1:n.613+239C>A
ENST00000675602.1:n.6508+239C>A
ENST00000675647.1:n.4624+239C>A
ENST00000675711.1:c.3577+239C>A ENSP00000502485.1:n.3577+239C>A
ENST00000675727.1:c.3460+239C>A ENSP00000501722.1:n.3460+239C>A
ENST00000675748.1:n.5094+239C>A
ENST00000675765.1:c.*843+239C>A ENSP00000502640.1:n.*843+239C>A
ENST00000675825.1:c.3502+239C>A ENSP00000502632.1:n.3502+239C>A
ENST00000675877.1:n.5304+239C>A
ENST00000675893.1:c.*4529+239C>A ENSP00000502001.1:n.*4529+239C>A
ENST00000675943.1:n.7075+239C>A
ENST00000675979.1:c.*2703+239C>A ENSP00000502208.1:n.*2703+239C>A
ENST00000676044.1:c.*1120+239C>A ENSP00000502378.1:n.*1120+239C>A
ENST00000676086.1:n.5245+239C>A
ENST00000676121.1:n.5288+239C>A
ENST00000676162.1:n.189+239C>A
ENST00000676237.1:c.3403+239C>A ENSP00000501828.1:n.3403+239C>A
ENST00000676416.1:c.3160+239C>A ENSP00000501660.1:n.3160+239C>A
ENST00000676424.1:n.5298+239C>A
ENST00000676429.1:n.7929+239C>A
ENST00000374647.9:c.3460+239C>A ENSP00000363779.5:n.3460+239C>A
ENST00000467959.1:n.340+239C>A
ENST00000495759.5:c.600+239C>A
ENST00000537196.1:c.2413+239C>A ENSP00000439367.1:n.2413+239C>A
NM_003640.3:c.3460+239C>A , LRG_251t1:c.3460+239C>A NP_003631.2:n.3460+239C>A
XM_005252285.2:c.3118+239C>A XP_005252342.1:n.3118+239C>A
XM_011519136.1:c.3502+239C>A XP_011517438.1:n.3502+239C>A
XM_011519137.1:c.3160+239C>A XP_011517439.1:n.3160+239C>A
NM_001318360.1:c.3118+239C>A NP_001305289.1:n.3118+239C>A
NM_001330749.1:c.2413+239C>A NP_001317678.1:n.2413+239C>A
NM_003640.4:c.3460+239C>A NP_003631.2:n.3460+239C>A
XM_011519136.2:c.3502+239C>A XP_011517438.1:n.3502+239C>A
XR_929859.3:n.3849+239C>A
NM_003640.5:c.3460+239C>A MANE Select NP_003631.2:n.3460+239C>A
NM_001318360.2:c.3118+239C>A NP_001305289.1:n.3118+239C>A
NM_001330749.2:c.2413+239C>A NP_001317678.1:n.2413+239C>A