Canonical Allele Identifier: CA5174182

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878028C>T , CM000671.2:g.108878028C>T	GRCh38
NC_000009.11:g.111640308C>T , CM000671.1:g.111640308C>T	GRCh37
NC_000009.10:g.110680129C>T	NCBI36
NG_008788.1:g.61301G>A , LRG_251:g.61301G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3822G>A MANE Select	NP_003631.2:p.Trp1274Ter
ENST00000374647.10:c.3822G>A MANE Select	ENSP00000363779.5:p.Trp1274Ter
NM_001318360.1:c.3480G>A	NP_001305289.1:p.Trp1160Ter
NM_001318360.2:c.3480G>A	NP_001305289.1:p.Trp1160Ter
NM_001330749.1:c.2775G>A	NP_001317678.1:p.Trp925Ter
NM_001330749.2:c.2775G>A	NP_001317678.1:p.Trp925Ter
NM_003640.3:c.3822G>A , LRG_251t1:c.3822G>A	NP_003631.2:p.Trp1274Ter
NM_003640.4:c.3822G>A	NP_003631.2:p.Trp1274Ter
ENST00000374647.9:c.3822G>A	ENSP00000363779.5:p.Trp1274Ter
ENST00000495759.5:c.962G>A
ENST00000495759.6:c.*2432G>A	ENSP00000433514.2:n.*2432G>A
ENST00000537196.1:c.2775G>A	ENSP00000439367.1:p.Trp925Ter
ENST00000674535.1:c.3822G>A	ENSP00000502142.1:p.Trp1274Ter
ENST00000674704.1:n.6907G>A
ENST00000674740.1:n.705G>A
ENST00000674836.1:n.4435G>A
ENST00000674890.1:c.*1057G>A	ENSP00000501870.1:n.*1057G>A
ENST00000674938.1:c.3480G>A	ENSP00000502427.1:p.Trp1160Ter
ENST00000674948.1:c.3480G>A	ENSP00000501602.1:p.Trp1160Ter
ENST00000675052.1:c.3822G>A	ENSP00000502664.1:p.Trp1274Ter
ENST00000675062.1:n.868G>A
ENST00000675078.1:c.3822G>A	ENSP00000501549.1:p.Trp1274Ter
ENST00000675215.1:c.*3046G>A	ENSP00000502558.1:n.*3046G>A
ENST00000675233.1:n.5649G>A
ENST00000675321.1:c.3710G>A	ENSP00000502751.1:n.3710G>A
ENST00000675325.1:n.5779G>A
ENST00000675335.1:c.3853G>A	ENSP00000502182.1:n.3853G>A
ENST00000675370.1:n.488G>A
ENST00000675400.1:n.5674G>A
ENST00000675406.1:c.3822G>A	ENSP00000501893.1:p.Trp1274Ter
ENST00000675458.1:c.3915G>A	ENSP00000501754.1:n.3915G>A
ENST00000675507.1:n.5618G>A
ENST00000675535.1:c.*1449G>A	ENSP00000501667.1:n.*1449G>A
ENST00000675566.1:n.5680G>A
ENST00000675580.1:n.975G>A
ENST00000675602.1:n.6870G>A
ENST00000675647.1:n.4986G>A
ENST00000675711.1:c.3939G>A	ENSP00000502485.1:n.3939G>A
ENST00000675727.1:c.3822G>A	ENSP00000501722.1:p.Trp1274Ter
ENST00000675748.1:n.5456G>A
ENST00000675765.1:c.*1205G>A	ENSP00000502640.1:n.*1205G>A
ENST00000675825.1:c.3864G>A	ENSP00000502632.1:p.Trp1288Ter
ENST00000675877.1:n.5666G>A
ENST00000675893.1:c.*4891G>A	ENSP00000502001.1:n.*4891G>A
ENST00000675943.1:n.7437G>A
ENST00000675979.1:c.*3065G>A	ENSP00000502208.1:n.*3065G>A
ENST00000676044.1:c.*1482G>A	ENSP00000502378.1:n.*1482G>A
ENST00000676086.1:n.5607G>A
ENST00000676121.1:n.5650G>A
ENST00000676162.1:n.551G>A
ENST00000676237.1:c.3765G>A	ENSP00000501828.1:p.Trp1255Ter
ENST00000676416.1:c.3522G>A	ENSP00000501660.1:p.Trp1174Ter
ENST00000676424.1:n.5660G>A
ENST00000676429.1:n.8291G>A
XM_005252285.2:c.3480G>A	XP_005252342.1:p.Trp1160Ter
XM_011519136.1:c.3864G>A	XP_011517438.1:p.Trp1288Ter
XM_011519136.2:c.3864G>A	XP_011517438.1:p.Trp1288Ter
XM_011519137.1:c.3522G>A	XP_011517439.1:p.Trp1174Ter
XR_929859.3:n.4211G>A