Canonical Allele Identifier: CA3165921470
Community Standard Title: NM_003640.5(ELP1):c.2158C= (p.His720=)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108899868G= , CM000671.2:g.108899868G= GRCh38
NC_000009.11:g.111662148G= , CM000671.1:g.111662148G= GRCh37
NC_000009.10:g.110701969G= NCBI36
NG_008788.1:g.39461C= , LRG_251:g.39461C=

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2158C= MANE Select NP_003631.2:p.His720=
ENST00000374647.10:c.2158C= MANE Select ENSP00000363779.5:p.His720=
NM_001318360.1:c.1816C= NP_001305289.1:p.His606=
NM_001318360.2:c.1816C= NP_001305289.1:p.His606=
NM_001330749.1:c.1111C= NP_001317678.1:p.His371=
NM_001330749.2:c.1111C= NP_001317678.1:p.His371=
NM_003640.3:c.2158C= , LRG_251t1:c.2158C= NP_003631.2:p.His720=
NM_003640.4:c.2158C= NP_003631.2:p.His720=
ENST00000374647.9:c.2158C= ENSP00000363779.5:p.His720=
ENST00000495759.6:c.*768C= ENSP00000433514.2:n.*768C=
ENST00000537196.1:c.1111C= ENSP00000439367.1:p.His371=
ENST00000674535.1:c.2158C= ENSP00000502142.1:p.His720=
ENST00000674704.1:n.3965C=
ENST00000674836.1:n.2463C=
ENST00000674890.1:c.2158C= ENSP00000501870.1:p.His720=
ENST00000674938.1:c.1816C= ENSP00000502427.1:p.His606=
ENST00000674948.1:c.1816C= ENSP00000501602.1:p.His606=
ENST00000675052.1:c.2158C= ENSP00000502664.1:p.His720=
ENST00000675078.1:c.2158C= ENSP00000501549.1:p.His720=
ENST00000675215.1:c.*1382C= ENSP00000502558.1:n.*1382C=
ENST00000675233.1:n.3985C=
ENST00000675321.1:c.2158C= ENSP00000502751.1:p.His720=
ENST00000675325.1:n.3954C=
ENST00000675335.1:c.2189C= ENSP00000502182.1:n.2189C=
ENST00000675400.1:n.3831C=
ENST00000675406.1:c.2158C= ENSP00000501893.1:p.His720=
ENST00000675458.1:c.2251C= ENSP00000501754.1:n.2251C=
ENST00000675507.1:n.3954C=
ENST00000675535.1:c.2158C= ENSP00000501667.1:p.His720=
ENST00000675566.1:n.3954C=
ENST00000675602.1:n.5206C=
ENST00000675647.1:n.2463C=
ENST00000675711.1:c.2158C= ENSP00000502485.1:p.His720=
ENST00000675727.1:c.2158C= ENSP00000501722.1:p.His720=
ENST00000675748.1:n.3792C=
ENST00000675765.1:c.2158C= ENSP00000502640.1:p.His720=
ENST00000675825.1:c.2158C= ENSP00000502632.1:p.His720=
ENST00000675877.1:n.2463C=
ENST00000675893.1:c.*3227C= ENSP00000502001.1:n.*3227C=
ENST00000675943.1:n.5773C=
ENST00000675979.1:c.*1401C= ENSP00000502208.1:n.*1401C=
ENST00000676044.1:c.2158C= ENSP00000502378.1:p.His720=
ENST00000676086.1:n.3943C=
ENST00000676121.1:n.3986C=
ENST00000676237.1:c.2059C= ENSP00000501828.1:p.His687=
ENST00000676416.1:c.1816C= ENSP00000501660.1:p.His606=
ENST00000676424.1:n.3954C=
ENST00000676429.1:n.6627C=
XM_005252285.2:c.1816C= XP_005252342.1:p.His606=
XM_011519136.1:c.2158C= XP_011517438.1:p.His720=
XM_011519136.2:c.2158C= XP_011517438.1:p.His720=
XM_011519137.1:c.1816C= XP_011517439.1:p.His606=
XR_929859.1:n.2474C=
XR_929859.3:n.2485C=