Canonical Allele Identifier: CA374410817

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878131A>C , CM000671.2:g.108878131A>C	GRCh38
NC_000009.11:g.111640411A>C , CM000671.1:g.111640411A>C	GRCh37
NC_000009.10:g.110680232A>C	NCBI36
NG_008788.1:g.61198T>G , LRG_251:g.61198T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3719T>G MANE Select	NP_003631.2:p.Leu1240Ter
ENST00000374647.10:c.3719T>G MANE Select	ENSP00000363779.5:p.Leu1240Ter
NM_001318360.1:c.3377T>G	NP_001305289.1:p.Leu1126Ter
NM_001318360.2:c.3377T>G	NP_001305289.1:p.Leu1126Ter
NM_001330749.1:c.2672T>G	NP_001317678.1:p.Leu891Ter
NM_001330749.2:c.2672T>G	NP_001317678.1:p.Leu891Ter
NM_003640.3:c.3719T>G , LRG_251t1:c.3719T>G	NP_003631.2:p.Leu1240Ter
NM_003640.4:c.3719T>G	NP_003631.2:p.Leu1240Ter
ENST00000374647.9:c.3719T>G	ENSP00000363779.5:p.Leu1240Ter
ENST00000495759.5:c.859T>G
ENST00000495759.6:c.*2329T>G	ENSP00000433514.2:n.*2329T>G
ENST00000537196.1:c.2672T>G	ENSP00000439367.1:p.Leu891Ter
ENST00000674535.1:c.3719T>G	ENSP00000502142.1:p.Leu1240Ter
ENST00000674704.1:n.6804T>G
ENST00000674740.1:n.602T>G
ENST00000674836.1:n.4332T>G
ENST00000674890.1:c.*954T>G	ENSP00000501870.1:n.*954T>G
ENST00000674938.1:c.3377T>G	ENSP00000502427.1:p.Leu1126Ter
ENST00000674948.1:c.3377T>G	ENSP00000501602.1:p.Leu1126Ter
ENST00000675052.1:c.3719T>G	ENSP00000502664.1:p.Leu1240Ter
ENST00000675062.1:n.765T>G
ENST00000675078.1:c.3719T>G	ENSP00000501549.1:p.Leu1240Ter
ENST00000675215.1:c.*2943T>G	ENSP00000502558.1:n.*2943T>G
ENST00000675233.1:n.5546T>G
ENST00000675321.1:c.3607T>G	ENSP00000502751.1:n.3607T>G
ENST00000675325.1:n.5676T>G
ENST00000675335.1:c.3750T>G	ENSP00000502182.1:n.3750T>G
ENST00000675370.1:n.385T>G
ENST00000675400.1:n.5571T>G
ENST00000675406.1:c.3719T>G	ENSP00000501893.1:p.Leu1240Ter
ENST00000675458.1:c.3812T>G	ENSP00000501754.1:n.3812T>G
ENST00000675507.1:n.5515T>G
ENST00000675535.1:c.*1346T>G	ENSP00000501667.1:n.*1346T>G
ENST00000675566.1:n.5577T>G
ENST00000675580.1:n.872T>G
ENST00000675602.1:n.6767T>G
ENST00000675647.1:n.4883T>G
ENST00000675711.1:c.3836T>G	ENSP00000502485.1:n.3836T>G
ENST00000675727.1:c.3719T>G	ENSP00000501722.1:p.Leu1240Ter
ENST00000675748.1:n.5353T>G
ENST00000675765.1:c.*1102T>G	ENSP00000502640.1:n.*1102T>G
ENST00000675825.1:c.3761T>G	ENSP00000502632.1:p.Leu1254Ter
ENST00000675877.1:n.5563T>G
ENST00000675893.1:c.*4788T>G	ENSP00000502001.1:n.*4788T>G
ENST00000675943.1:n.7334T>G
ENST00000675979.1:c.*2962T>G	ENSP00000502208.1:n.*2962T>G
ENST00000676044.1:c.*1379T>G	ENSP00000502378.1:n.*1379T>G
ENST00000676086.1:n.5504T>G
ENST00000676121.1:n.5547T>G
ENST00000676162.1:n.448T>G
ENST00000676237.1:c.3662T>G	ENSP00000501828.1:p.Leu1221Ter
ENST00000676416.1:c.3419T>G	ENSP00000501660.1:p.Leu1140Ter
ENST00000676424.1:n.5557T>G
ENST00000676429.1:n.8188T>G
XM_005252285.2:c.3377T>G	XP_005252342.1:p.Leu1126Ter
XM_011519136.1:c.3761T>G	XP_011517438.1:p.Leu1254Ter
XM_011519136.2:c.3761T>G	XP_011517438.1:p.Leu1254Ter
XM_011519137.1:c.3419T>G	XP_011517439.1:p.Leu1140Ter
XR_929859.3:n.4108T>G