Canonical Allele Identifier: CA374410515

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108877994C>A , CM000671.2:g.108877994C>A	GRCh38
NC_000009.11:g.111640274C>A , CM000671.1:g.111640274C>A	GRCh37
NC_000009.10:g.110680095C>A	NCBI36
NG_008788.1:g.61335G>T , LRG_251:g.61335G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3855+1G>T MANE Select	NP_003631.2:n.3855+1G>T
ENST00000374647.10:c.3855+1G>T MANE Select	ENSP00000363779.5:n.3855+1G>T
NM_001318360.1:c.3513+1G>T	NP_001305289.1:n.3513+1G>T
NM_001318360.2:c.3513+1G>T	NP_001305289.1:n.3513+1G>T
NM_001330749.1:c.2808+1G>T	NP_001317678.1:n.2808+1G>T
NM_001330749.2:c.2808+1G>T	NP_001317678.1:n.2808+1G>T
NM_003640.3:c.3855+1G>T , LRG_251t1:c.3855+1G>T	NP_003631.2:n.3855+1G>T
NM_003640.4:c.3855+1G>T	NP_003631.2:n.3855+1G>T
ENST00000374647.9:c.3855+1G>T	ENSP00000363779.5:n.3855+1G>T
ENST00000495759.5:c.995+1G>T
ENST00000495759.6:c.*2465+1G>T	ENSP00000433514.2:n.*2465+1G>T
ENST00000537196.1:c.2808+1G>T	ENSP00000439367.1:n.2808+1G>T
ENST00000674535.1:c.3855+1G>T	ENSP00000502142.1:n.3855+1G>T
ENST00000674704.1:n.6940+1G>T
ENST00000674740.1:n.738+1G>T
ENST00000674836.1:n.4468+1G>T
ENST00000674890.1:c.*1090+1G>T	ENSP00000501870.1:n.*1090+1G>T
ENST00000674938.1:c.3513+1G>T	ENSP00000502427.1:n.3513+1G>T
ENST00000674948.1:c.3513+1G>T	ENSP00000501602.1:n.3513+1G>T
ENST00000675052.1:c.3855+1G>T	ENSP00000502664.1:n.3855+1G>T
ENST00000675062.1:n.902G>T
ENST00000675078.1:c.3855+1G>T	ENSP00000501549.1:n.3855+1G>T
ENST00000675215.1:c.*3079+1G>T	ENSP00000502558.1:n.*3079+1G>T
ENST00000675233.1:n.5682+1G>T
ENST00000675321.1:c.3743+1G>T	ENSP00000502751.1:n.3743+1G>T
ENST00000675325.1:n.5812+1G>T
ENST00000675335.1:c.3886+1G>T	ENSP00000502182.1:n.3886+1G>T
ENST00000675370.1:n.522G>T
ENST00000675400.1:n.5707+1G>T
ENST00000675406.1:c.3855+1G>T	ENSP00000501893.1:n.3855+1G>T
ENST00000675458.1:c.3948+1G>T	ENSP00000501754.1:n.3948+1G>T
ENST00000675507.1:n.5651+1G>T
ENST00000675535.1:c.*1482+1G>T	ENSP00000501667.1:n.*1482+1G>T
ENST00000675566.1:n.5713+1G>T
ENST00000675580.1:n.1008+1G>T
ENST00000675602.1:n.6903+1G>T
ENST00000675647.1:n.5019+1G>T
ENST00000675711.1:c.3972+1G>T	ENSP00000502485.1:n.3972+1G>T
ENST00000675727.1:c.3855+1G>T	ENSP00000501722.1:n.3855+1G>T
ENST00000675748.1:n.5489+1G>T
ENST00000675765.1:c.*1238+1G>T	ENSP00000502640.1:n.*1238+1G>T
ENST00000675825.1:c.3897+1G>T	ENSP00000502632.1:n.3897+1G>T
ENST00000675877.1:n.5699+1G>T
ENST00000675893.1:c.*4924+1G>T	ENSP00000502001.1:n.*4924+1G>T
ENST00000675943.1:n.7470+1G>T
ENST00000675979.1:c.*3098+1G>T	ENSP00000502208.1:n.*3098+1G>T
ENST00000676044.1:c.*1515+1G>T	ENSP00000502378.1:n.*1515+1G>T
ENST00000676086.1:n.5640+1G>T
ENST00000676121.1:n.5683+1G>T
ENST00000676162.1:n.584+1G>T
ENST00000676237.1:c.3798+1G>T	ENSP00000501828.1:n.3798+1G>T
ENST00000676416.1:c.3555+1G>T	ENSP00000501660.1:n.3555+1G>T
ENST00000676424.1:n.5693+1G>T
ENST00000676429.1:n.8324+1G>T
XM_005252285.2:c.3513+1G>T	XP_005252342.1:n.3513+1G>T
XM_011519136.1:c.3897+1G>T	XP_011517438.1:n.3897+1G>T
XM_011519136.2:c.3897+1G>T	XP_011517438.1:n.3897+1G>T
XM_011519137.1:c.3555+1G>T	XP_011517439.1:n.3555+1G>T
XR_929859.3:n.4244+1G>T