Canonical Allele Identifier: CA3165564762
Community Standard Title: NM_003640.5(ELP1):c.2076G= (p.Glu692=)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108900314C= , CM000671.2:g.108900314C= GRCh38
NC_000009.11:g.111662594C= , CM000671.1:g.111662594C= GRCh37
NC_000009.10:g.110702415C= NCBI36
NG_008788.1:g.39015G= , LRG_251:g.39015G=

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2076G= MANE Select NP_003631.2:p.Glu692=
ENST00000374647.10:c.2076G= MANE Select ENSP00000363779.5:p.Glu692=
NM_001318360.1:c.1734G= NP_001305289.1:p.Glu578=
NM_001318360.2:c.1734G= NP_001305289.1:p.Glu578=
NM_001330749.1:c.1029G= NP_001317678.1:p.Glu343=
NM_001330749.2:c.1029G= NP_001317678.1:p.Glu343=
NM_003640.3:c.2076G= , LRG_251t1:c.2076G= NP_003631.2:p.Glu692=
NM_003640.4:c.2076G= NP_003631.2:p.Glu692=
ENST00000374647.9:c.2076G= ENSP00000363779.5:p.Glu692=
ENST00000495759.6:c.*686G= ENSP00000433514.2:n.*686G=
ENST00000537196.1:c.1029G= ENSP00000439367.1:p.Glu343=
ENST00000674535.1:c.2076G= ENSP00000502142.1:p.Glu692=
ENST00000674704.1:n.3883G=
ENST00000674836.1:n.2381G=
ENST00000674890.1:c.2076G= ENSP00000501870.1:p.Glu692=
ENST00000674938.1:c.1734G= ENSP00000502427.1:p.Glu578=
ENST00000674948.1:c.1734G= ENSP00000501602.1:p.Glu578=
ENST00000675052.1:c.2076G= ENSP00000502664.1:p.Glu692=
ENST00000675078.1:c.2076G= ENSP00000501549.1:p.Glu692=
ENST00000675215.1:c.*1300G= ENSP00000502558.1:n.*1300G=
ENST00000675233.1:n.3903G=
ENST00000675321.1:c.2076G= ENSP00000502751.1:p.Glu692=
ENST00000675325.1:n.3872G=
ENST00000675335.1:c.2107G= ENSP00000502182.1:n.2107G=
ENST00000675400.1:n.3749G=
ENST00000675406.1:c.2076G= ENSP00000501893.1:p.Glu692=
ENST00000675458.1:c.2169G= ENSP00000501754.1:n.2169G=
ENST00000675507.1:n.3872G=
ENST00000675535.1:c.2076G= ENSP00000501667.1:p.Glu692=
ENST00000675566.1:n.3872G=
ENST00000675602.1:n.5124G=
ENST00000675647.1:n.2381G=
ENST00000675711.1:c.2076G= ENSP00000502485.1:p.Glu692=
ENST00000675727.1:c.2076G= ENSP00000501722.1:p.Glu692=
ENST00000675748.1:n.3710G=
ENST00000675765.1:c.2076G= ENSP00000502640.1:p.Glu692=
ENST00000675825.1:c.2076G= ENSP00000502632.1:p.Glu692=
ENST00000675877.1:n.2381G=
ENST00000675893.1:c.*3145G= ENSP00000502001.1:n.*3145G=
ENST00000675943.1:n.5691G=
ENST00000675979.1:c.*1319G= ENSP00000502208.1:n.*1319G=
ENST00000676044.1:c.2076G= ENSP00000502378.1:p.Glu692=
ENST00000676086.1:n.3861G=
ENST00000676121.1:n.3904G=
ENST00000676237.1:c.1977G= ENSP00000501828.1:p.Glu659=
ENST00000676416.1:c.1734G= ENSP00000501660.1:p.Glu578=
ENST00000676424.1:n.3872G=
ENST00000676429.1:n.6545G=
XM_005252285.2:c.1734G= XP_005252342.1:p.Glu578=
XM_011519136.1:c.2076G= XP_011517438.1:p.Glu692=
XM_011519136.2:c.2076G= XP_011517438.1:p.Glu692=
XM_011519137.1:c.1734G= XP_011517439.1:p.Glu578=
XR_929859.1:n.2392G=
XR_929859.3:n.2403G=