Canonical Allele Identifier: CA5174528
Community Standard Title: NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108893979G>A , CM000671.2:g.108893979G>A GRCh38
NC_000009.11:g.111656259G>A , CM000671.1:g.111656259G>A GRCh37
NC_000009.10:g.110696080G>A NCBI36
NG_008788.1:g.45350C>T , LRG_251:g.45350C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2824C>T MANE Select NP_003631.2:p.Arg942Ter
ENST00000374647.10:c.2824C>T MANE Select ENSP00000363779.5:p.Arg942Ter
NM_001318360.1:c.2482C>T NP_001305289.1:p.Arg828Ter
NM_001318360.2:c.2482C>T NP_001305289.1:p.Arg828Ter
NM_001330749.1:c.1777C>T NP_001317678.1:p.Arg593Ter
NM_001330749.2:c.1777C>T NP_001317678.1:p.Arg593Ter
NM_003640.3:c.2824C>T , LRG_251t1:c.2824C>T NP_003631.2:p.Arg942Ter
NM_003640.4:c.2824C>T NP_003631.2:p.Arg942Ter
ENST00000374647.9:c.2824C>T ENSP00000363779.5:p.Arg942Ter
ENST00000495759.6:c.*1434C>T ENSP00000433514.2:n.*1434C>T
ENST00000537196.1:c.1777C>T ENSP00000439367.1:p.Arg593Ter
ENST00000674535.1:c.2824C>T ENSP00000502142.1:p.Arg942Ter
ENST00000674704.1:n.5909C>T
ENST00000674836.1:n.3437C>T
ENST00000674890.1:c.*59C>T ENSP00000501870.1:n.*59C>T
ENST00000674938.1:c.2482C>T ENSP00000502427.1:p.Arg828Ter
ENST00000674948.1:c.2482C>T ENSP00000501602.1:p.Arg828Ter
ENST00000675052.1:c.2824C>T ENSP00000502664.1:p.Arg942Ter
ENST00000675078.1:c.2824C>T ENSP00000501549.1:p.Arg942Ter
ENST00000675215.1:c.*2048C>T ENSP00000502558.1:n.*2048C>T
ENST00000675233.1:n.4651C>T
ENST00000675321.1:c.2824C>T ENSP00000502751.1:p.Arg942Ter
ENST00000675325.1:n.4781C>T
ENST00000675335.1:c.2855C>T ENSP00000502182.1:n.2855C>T
ENST00000675400.1:n.4559C>T
ENST00000675406.1:c.2824C>T ENSP00000501893.1:p.Arg942Ter
ENST00000675458.1:c.2917C>T ENSP00000501754.1:n.2917C>T
ENST00000675507.1:n.4620C>T
ENST00000675535.1:c.*451C>T ENSP00000501667.1:n.*451C>T
ENST00000675566.1:n.4682C>T
ENST00000675602.1:n.5872C>T
ENST00000675647.1:n.3129C>T
ENST00000675711.1:c.2824C>T ENSP00000502485.1:p.Arg942Ter
ENST00000675727.1:c.2824C>T ENSP00000501722.1:p.Arg942Ter
ENST00000675748.1:n.4458C>T
ENST00000675765.1:c.*207C>T ENSP00000502640.1:n.*207C>T
ENST00000675825.1:c.2824C>T ENSP00000502632.1:p.Arg942Ter
ENST00000675877.1:n.3129C>T
ENST00000675893.1:c.*3893C>T ENSP00000502001.1:n.*3893C>T
ENST00000675943.1:n.6439C>T
ENST00000675979.1:c.*2067C>T ENSP00000502208.1:n.*2067C>T
ENST00000676044.1:c.*484C>T ENSP00000502378.1:n.*484C>T
ENST00000676086.1:n.4609C>T
ENST00000676121.1:n.4652C>T
ENST00000676237.1:c.2725C>T ENSP00000501828.1:p.Arg909Ter
ENST00000676416.1:c.2482C>T ENSP00000501660.1:p.Arg828Ter
ENST00000676424.1:n.4620C>T
ENST00000676429.1:n.7293C>T
XM_005252285.2:c.2482C>T XP_005252342.1:p.Arg828Ter
XM_011519136.1:c.2824C>T XP_011517438.1:p.Arg942Ter
XM_011519136.2:c.2824C>T XP_011517438.1:p.Arg942Ter
XM_011519137.1:c.2482C>T XP_011517439.1:p.Arg828Ter
XR_929859.1:n.3202C>T
XR_929859.3:n.3213C>T