Canonical Allele Identifier: CA374410662

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878060G>A , CM000671.2:g.108878060G>A	GRCh38
NC_000009.11:g.111640340G>A , CM000671.1:g.111640340G>A	GRCh37
NC_000009.10:g.110680161G>A	NCBI36
NG_008788.1:g.61269C>T , LRG_251:g.61269C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3790C>T MANE Select	NP_003631.2:p.Gln1264Ter
ENST00000374647.10:c.3790C>T MANE Select	ENSP00000363779.5:p.Gln1264Ter
NM_001318360.1:c.3448C>T	NP_001305289.1:p.Gln1150Ter
NM_001318360.2:c.3448C>T	NP_001305289.1:p.Gln1150Ter
NM_001330749.1:c.2743C>T	NP_001317678.1:p.Gln915Ter
NM_001330749.2:c.2743C>T	NP_001317678.1:p.Gln915Ter
NM_003640.3:c.3790C>T , LRG_251t1:c.3790C>T	NP_003631.2:p.Gln1264Ter
NM_003640.4:c.3790C>T	NP_003631.2:p.Gln1264Ter
ENST00000374647.9:c.3790C>T	ENSP00000363779.5:p.Gln1264Ter
ENST00000495759.5:c.930C>T
ENST00000495759.6:c.*2400C>T	ENSP00000433514.2:n.*2400C>T
ENST00000537196.1:c.2743C>T	ENSP00000439367.1:p.Gln915Ter
ENST00000674535.1:c.3790C>T	ENSP00000502142.1:p.Gln1264Ter
ENST00000674704.1:n.6875C>T
ENST00000674740.1:n.673C>T
ENST00000674836.1:n.4403C>T
ENST00000674890.1:c.*1025C>T	ENSP00000501870.1:n.*1025C>T
ENST00000674938.1:c.3448C>T	ENSP00000502427.1:p.Gln1150Ter
ENST00000674948.1:c.3448C>T	ENSP00000501602.1:p.Gln1150Ter
ENST00000675052.1:c.3790C>T	ENSP00000502664.1:p.Gln1264Ter
ENST00000675062.1:n.836C>T
ENST00000675078.1:c.3790C>T	ENSP00000501549.1:p.Gln1264Ter
ENST00000675215.1:c.*3014C>T	ENSP00000502558.1:n.*3014C>T
ENST00000675233.1:n.5617C>T
ENST00000675321.1:c.3678C>T	ENSP00000502751.1:n.3678C>T
ENST00000675325.1:n.5747C>T
ENST00000675335.1:c.3821C>T	ENSP00000502182.1:n.3821C>T
ENST00000675370.1:n.456C>T
ENST00000675400.1:n.5642C>T
ENST00000675406.1:c.3790C>T	ENSP00000501893.1:p.Gln1264Ter
ENST00000675458.1:c.3883C>T	ENSP00000501754.1:n.3883C>T
ENST00000675507.1:n.5586C>T
ENST00000675535.1:c.*1417C>T	ENSP00000501667.1:n.*1417C>T
ENST00000675566.1:n.5648C>T
ENST00000675580.1:n.943C>T
ENST00000675602.1:n.6838C>T
ENST00000675647.1:n.4954C>T
ENST00000675711.1:c.3907C>T	ENSP00000502485.1:n.3907C>T
ENST00000675727.1:c.3790C>T	ENSP00000501722.1:p.Gln1264Ter
ENST00000675748.1:n.5424C>T
ENST00000675765.1:c.*1173C>T	ENSP00000502640.1:n.*1173C>T
ENST00000675825.1:c.3832C>T	ENSP00000502632.1:p.Gln1278Ter
ENST00000675877.1:n.5634C>T
ENST00000675893.1:c.*4859C>T	ENSP00000502001.1:n.*4859C>T
ENST00000675943.1:n.7405C>T
ENST00000675979.1:c.*3033C>T	ENSP00000502208.1:n.*3033C>T
ENST00000676044.1:c.*1450C>T	ENSP00000502378.1:n.*1450C>T
ENST00000676086.1:n.5575C>T
ENST00000676121.1:n.5618C>T
ENST00000676162.1:n.519C>T
ENST00000676237.1:c.3733C>T	ENSP00000501828.1:p.Gln1245Ter
ENST00000676416.1:c.3490C>T	ENSP00000501660.1:p.Gln1164Ter
ENST00000676424.1:n.5628C>T
ENST00000676429.1:n.8259C>T
XM_005252285.2:c.3448C>T	XP_005252342.1:p.Gln1150Ter
XM_011519136.1:c.3832C>T	XP_011517438.1:p.Gln1278Ter
XM_011519136.2:c.3832C>T	XP_011517438.1:p.Gln1278Ter
XM_011519137.1:c.3490C>T	XP_011517439.1:p.Gln1164Ter
XR_929859.3:n.4179C>T