Canonical Allele Identifier: CA5174237

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878731G>A , CM000671.2:g.108878731G>A	GRCh38
NC_000009.11:g.111641011G>A , CM000671.1:g.111641011G>A	GRCh37
NC_000009.10:g.110680832G>A	NCBI36
NG_008788.1:g.60598C>T , LRG_251:g.60598C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3592C>T MANE Select	NP_003631.2:p.Arg1198Ter
ENST00000374647.10:c.3592C>T MANE Select	ENSP00000363779.5:p.Arg1198Ter
NM_001318360.1:c.3250C>T	NP_001305289.1:p.Arg1084Ter
NM_001318360.2:c.3250C>T	NP_001305289.1:p.Arg1084Ter
NM_001330749.1:c.2545C>T	NP_001317678.1:p.Arg849Ter
NM_001330749.2:c.2545C>T	NP_001317678.1:p.Arg849Ter
NM_003640.3:c.3592C>T , LRG_251t1:c.3592C>T	NP_003631.2:p.Arg1198Ter
NM_003640.4:c.3592C>T	NP_003631.2:p.Arg1198Ter
ENST00000374647.9:c.3592C>T	ENSP00000363779.5:p.Arg1198Ter
ENST00000495759.5:c.732C>T
ENST00000495759.6:c.*2202C>T	ENSP00000433514.2:n.*2202C>T
ENST00000537196.1:c.2545C>T	ENSP00000439367.1:p.Arg849Ter
ENST00000674535.1:c.3592C>T	ENSP00000502142.1:p.Arg1198Ter
ENST00000674704.1:n.6677C>T
ENST00000674740.1:n.475C>T
ENST00000674836.1:n.4205C>T
ENST00000674890.1:c.*827C>T	ENSP00000501870.1:n.*827C>T
ENST00000674938.1:c.3250C>T	ENSP00000502427.1:p.Arg1084Ter
ENST00000674948.1:c.3250C>T	ENSP00000501602.1:p.Arg1084Ter
ENST00000675052.1:c.3592C>T	ENSP00000502664.1:p.Arg1198Ter
ENST00000675062.1:n.638C>T
ENST00000675078.1:c.3592C>T	ENSP00000501549.1:p.Arg1198Ter
ENST00000675215.1:c.*2816C>T	ENSP00000502558.1:n.*2816C>T
ENST00000675233.1:n.5419C>T
ENST00000675321.1:c.3480C>T	ENSP00000502751.1:p.Ala1160=
ENST00000675325.1:n.5549C>T
ENST00000675335.1:c.3623C>T	ENSP00000502182.1:n.3623C>T
ENST00000675370.1:n.258C>T
ENST00000675400.1:n.5444C>T
ENST00000675406.1:c.3592C>T	ENSP00000501893.1:p.Arg1198Ter
ENST00000675458.1:c.3685C>T	ENSP00000501754.1:n.3685C>T
ENST00000675507.1:n.5388C>T
ENST00000675535.1:c.*1219C>T	ENSP00000501667.1:n.*1219C>T
ENST00000675566.1:n.5450C>T
ENST00000675580.1:n.745C>T
ENST00000675602.1:n.6640C>T
ENST00000675647.1:n.4756C>T
ENST00000675711.1:c.3709C>T	ENSP00000502485.1:n.3709C>T
ENST00000675727.1:c.3592C>T	ENSP00000501722.1:p.Arg1198Ter
ENST00000675748.1:n.5226C>T
ENST00000675765.1:c.*975C>T	ENSP00000502640.1:n.*975C>T
ENST00000675825.1:c.3634C>T	ENSP00000502632.1:p.Arg1212Ter
ENST00000675877.1:n.5436C>T
ENST00000675893.1:c.*4661C>T	ENSP00000502001.1:n.*4661C>T
ENST00000675943.1:n.7207C>T
ENST00000675979.1:c.*2835C>T	ENSP00000502208.1:n.*2835C>T
ENST00000676044.1:c.*1252C>T	ENSP00000502378.1:n.*1252C>T
ENST00000676086.1:n.5377C>T
ENST00000676121.1:n.5420C>T
ENST00000676162.1:n.321C>T
ENST00000676237.1:c.3535C>T	ENSP00000501828.1:p.Arg1179Ter
ENST00000676416.1:c.3292C>T	ENSP00000501660.1:p.Arg1098Ter
ENST00000676424.1:n.5430C>T
ENST00000676429.1:n.8061C>T
XM_005252285.2:c.3250C>T	XP_005252342.1:p.Arg1084Ter
XM_011519136.1:c.3634C>T	XP_011517438.1:p.Arg1212Ter
XM_011519136.2:c.3634C>T	XP_011517438.1:p.Arg1212Ter
XM_011519137.1:c.3292C>T	XP_011517439.1:p.Arg1098Ter
XR_929859.3:n.3981C>T