Canonical Allele Identifier: CA374411870

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879516C>A , CM000671.2:g.108879516C>A	GRCh38
NC_000009.11:g.111641796C>A , CM000671.1:g.111641796C>A	GRCh37
NC_000009.10:g.110681617C>A	NCBI36
NG_008788.1:g.59813G>T , LRG_251:g.59813G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3502G>T MANE Select	NP_003631.2:p.Glu1168Ter
ENST00000374647.10:c.3502G>T MANE Select	ENSP00000363779.5:p.Glu1168Ter
NM_001318360.1:c.3160G>T	NP_001305289.1:p.Glu1054Ter
NM_001318360.2:c.3160G>T	NP_001305289.1:p.Glu1054Ter
NM_001330749.1:c.2455G>T	NP_001317678.1:p.Glu819Ter
NM_001330749.2:c.2455G>T	NP_001317678.1:p.Glu819Ter
NM_003640.3:c.3502G>T , LRG_251t1:c.3502G>T	NP_003631.2:p.Glu1168Ter
NM_003640.4:c.3502G>T	NP_003631.2:p.Glu1168Ter
ENST00000374647.9:c.3502G>T	ENSP00000363779.5:p.Glu1168Ter
ENST00000467959.1:n.382G>T
ENST00000495759.5:c.642G>T
ENST00000495759.6:c.*2112G>T	ENSP00000433514.2:n.*2112G>T
ENST00000537196.1:c.2455G>T	ENSP00000439367.1:p.Glu819Ter
ENST00000674535.1:c.3502G>T	ENSP00000502142.1:p.Glu1168Ter
ENST00000674704.1:n.6587G>T
ENST00000674740.1:n.385G>T
ENST00000674836.1:n.4115G>T
ENST00000674890.1:c.*737G>T	ENSP00000501870.1:n.*737G>T
ENST00000674938.1:c.3160G>T	ENSP00000502427.1:p.Glu1054Ter
ENST00000674948.1:c.3160G>T	ENSP00000501602.1:p.Glu1054Ter
ENST00000675052.1:c.3502G>T	ENSP00000502664.1:p.Glu1168Ter
ENST00000675062.1:n.548G>T
ENST00000675078.1:c.3502G>T	ENSP00000501549.1:p.Glu1168Ter
ENST00000675215.1:c.*2726G>T	ENSP00000502558.1:n.*2726G>T
ENST00000675233.1:n.5329G>T
ENST00000675321.1:c.3460+536G>T	ENSP00000502751.1:n.3460+536G>T
ENST00000675325.1:n.5459G>T
ENST00000675335.1:c.3533G>T	ENSP00000502182.1:n.3533G>T
ENST00000675400.1:n.5354G>T
ENST00000675406.1:c.3502G>T	ENSP00000501893.1:p.Glu1168Ter
ENST00000675458.1:c.3595G>T	ENSP00000501754.1:n.3595G>T
ENST00000675507.1:n.5298G>T
ENST00000675535.1:c.*1129G>T	ENSP00000501667.1:n.*1129G>T
ENST00000675566.1:n.5360G>T
ENST00000675580.1:n.655G>T
ENST00000675602.1:n.6550G>T
ENST00000675647.1:n.4666G>T
ENST00000675711.1:c.3619G>T	ENSP00000502485.1:n.3619G>T
ENST00000675727.1:c.3502G>T	ENSP00000501722.1:p.Glu1168Ter
ENST00000675748.1:n.5136G>T
ENST00000675765.1:c.*885G>T	ENSP00000502640.1:n.*885G>T
ENST00000675825.1:c.3544G>T	ENSP00000502632.1:p.Glu1182Ter
ENST00000675877.1:n.5346G>T
ENST00000675893.1:c.*4571G>T	ENSP00000502001.1:n.*4571G>T
ENST00000675943.1:n.7117G>T
ENST00000675979.1:c.*2745G>T	ENSP00000502208.1:n.*2745G>T
ENST00000676044.1:c.*1162G>T	ENSP00000502378.1:n.*1162G>T
ENST00000676086.1:n.5287G>T
ENST00000676121.1:n.5330G>T
ENST00000676162.1:n.231G>T
ENST00000676237.1:c.3445G>T	ENSP00000501828.1:p.Glu1149Ter
ENST00000676416.1:c.3202G>T	ENSP00000501660.1:p.Glu1068Ter
ENST00000676424.1:n.5340G>T
ENST00000676429.1:n.7971G>T
XM_005252285.2:c.3160G>T	XP_005252342.1:p.Glu1054Ter
XM_011519136.1:c.3544G>T	XP_011517438.1:p.Glu1182Ter
XM_011519136.2:c.3544G>T	XP_011517438.1:p.Glu1182Ter
XM_011519137.1:c.3202G>T	XP_011517439.1:p.Glu1068Ter
XR_929859.3:n.3891G>T