Canonical Allele Identifier: CA374411163

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878635C>A , CM000671.2:g.108878635C>A	GRCh38
NC_000009.11:g.111640915C>A , CM000671.1:g.111640915C>A	GRCh37
NC_000009.10:g.110680736C>A	NCBI36
NG_008788.1:g.60694G>T , LRG_251:g.60694G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3688G>T MANE Select	NP_003631.2:p.Glu1230Ter
ENST00000374647.10:c.3688G>T MANE Select	ENSP00000363779.5:p.Glu1230Ter
NM_001318360.1:c.3346G>T	NP_001305289.1:p.Glu1116Ter
NM_001318360.2:c.3346G>T	NP_001305289.1:p.Glu1116Ter
NM_001330749.1:c.2641G>T	NP_001317678.1:p.Glu881Ter
NM_001330749.2:c.2641G>T	NP_001317678.1:p.Glu881Ter
NM_003640.3:c.3688G>T , LRG_251t1:c.3688G>T	NP_003631.2:p.Glu1230Ter
NM_003640.4:c.3688G>T	NP_003631.2:p.Glu1230Ter
ENST00000374647.9:c.3688G>T	ENSP00000363779.5:p.Glu1230Ter
ENST00000495759.5:c.828G>T
ENST00000495759.6:c.*2298G>T	ENSP00000433514.2:n.*2298G>T
ENST00000537196.1:c.2641G>T	ENSP00000439367.1:p.Glu881Ter
ENST00000674535.1:c.3688G>T	ENSP00000502142.1:p.Glu1230Ter
ENST00000674704.1:n.6773G>T
ENST00000674740.1:n.571G>T
ENST00000674836.1:n.4301G>T
ENST00000674890.1:c.*923G>T	ENSP00000501870.1:n.*923G>T
ENST00000674938.1:c.3346G>T	ENSP00000502427.1:p.Glu1116Ter
ENST00000674948.1:c.3346G>T	ENSP00000501602.1:p.Glu1116Ter
ENST00000675052.1:c.3688G>T	ENSP00000502664.1:p.Glu1230Ter
ENST00000675062.1:n.734G>T
ENST00000675078.1:c.3688G>T	ENSP00000501549.1:p.Glu1230Ter
ENST00000675215.1:c.*2912G>T	ENSP00000502558.1:n.*2912G>T
ENST00000675233.1:n.5515G>T
ENST00000675321.1:c.3576G>T	ENSP00000502751.1:n.3576G>T
ENST00000675325.1:n.5645G>T
ENST00000675335.1:c.3719G>T	ENSP00000502182.1:n.3719G>T
ENST00000675370.1:n.354G>T
ENST00000675400.1:n.5540G>T
ENST00000675406.1:c.3688G>T	ENSP00000501893.1:p.Glu1230Ter
ENST00000675458.1:c.3781G>T	ENSP00000501754.1:n.3781G>T
ENST00000675507.1:n.5484G>T
ENST00000675535.1:c.*1315G>T	ENSP00000501667.1:n.*1315G>T
ENST00000675566.1:n.5546G>T
ENST00000675580.1:n.841G>T
ENST00000675602.1:n.6736G>T
ENST00000675647.1:n.4852G>T
ENST00000675711.1:c.3805G>T	ENSP00000502485.1:n.3805G>T
ENST00000675727.1:c.3688G>T	ENSP00000501722.1:p.Glu1230Ter
ENST00000675748.1:n.5322G>T
ENST00000675765.1:c.*1071G>T	ENSP00000502640.1:n.*1071G>T
ENST00000675825.1:c.3730G>T	ENSP00000502632.1:p.Glu1244Ter
ENST00000675877.1:n.5532G>T
ENST00000675893.1:c.*4757G>T	ENSP00000502001.1:n.*4757G>T
ENST00000675943.1:n.7303G>T
ENST00000675979.1:c.*2931G>T	ENSP00000502208.1:n.*2931G>T
ENST00000676044.1:c.*1348G>T	ENSP00000502378.1:n.*1348G>T
ENST00000676086.1:n.5473G>T
ENST00000676121.1:n.5516G>T
ENST00000676162.1:n.417G>T
ENST00000676237.1:c.3631G>T	ENSP00000501828.1:p.Glu1211Ter
ENST00000676416.1:c.3388G>T	ENSP00000501660.1:p.Glu1130Ter
ENST00000676424.1:n.5526G>T
ENST00000676429.1:n.8157G>T
XM_005252285.2:c.3346G>T	XP_005252342.1:p.Glu1116Ter
XM_011519136.1:c.3730G>T	XP_011517438.1:p.Glu1244Ter
XM_011519136.2:c.3730G>T	XP_011517438.1:p.Glu1244Ter
XM_011519137.1:c.3388G>T	XP_011517439.1:p.Glu1130Ter
XR_929859.3:n.4077G>T