Canonical Allele Identifier: CA1871332970
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108889360G= , CM000671.2:g.108889360G= GRCh38
NC_000009.11:g.111651640G= , CM000671.1:g.111651640G= GRCh37
NC_000009.10:g.110691461G= NCBI36
NG_008788.1:g.49969C= , LRG_251:g.49969C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374647.10:c.3194C= MANE Select ENSP00000363779.5:p.Ala1065=
ENST00000495759.6:c.*1804C= ENSP00000433514.2:n.*1804C=
ENST00000674535.1:c.3194C= ENSP00000502142.1:p.Ala1065=
ENST00000674704.1:n.6279C=
ENST00000674836.1:n.3807C=
ENST00000674890.1:c.*429C= ENSP00000501870.1:n.*429C=
ENST00000674938.1:c.2852C= ENSP00000502427.1:p.Ala951=
ENST00000674948.1:c.2852C= ENSP00000501602.1:p.Ala951=
ENST00000675052.1:c.3194C= ENSP00000502664.1:p.Ala1065=
ENST00000675078.1:c.3194C= ENSP00000501549.1:p.Ala1065=
ENST00000675215.1:c.*2418C= ENSP00000502558.1:n.*2418C=
ENST00000675233.1:n.5021C=
ENST00000675321.1:c.3194C= ENSP00000502751.1:p.Ala1065=
ENST00000675325.1:n.5151C=
ENST00000675335.1:c.3225C= ENSP00000502182.1:n.3225C=
ENST00000675400.1:n.4929C=
ENST00000675406.1:c.3194C= ENSP00000501893.1:p.Ala1065=
ENST00000675458.1:c.3287C= ENSP00000501754.1:n.3287C=
ENST00000675507.1:n.4990C=
ENST00000675535.1:c.*821C= ENSP00000501667.1:n.*821C=
ENST00000675566.1:n.5052C=
ENST00000675602.1:n.6242C=
ENST00000675647.1:n.4358C=
ENST00000675711.1:c.3194C= ENSP00000502485.1:p.Ala1065=
ENST00000675727.1:c.3194C= ENSP00000501722.1:p.Ala1065=
ENST00000675748.1:n.4828C=
ENST00000675765.1:c.*577C= ENSP00000502640.1:n.*577C=
ENST00000675825.1:c.3194C= ENSP00000502632.1:p.Ala1065=
ENST00000675877.1:n.3499C=
ENST00000675893.1:c.*4263C= ENSP00000502001.1:n.*4263C=
ENST00000675943.1:n.6809C=
ENST00000675979.1:c.*2437C= ENSP00000502208.1:n.*2437C=
ENST00000676044.1:c.*854C= ENSP00000502378.1:n.*854C=
ENST00000676086.1:n.4979C=
ENST00000676121.1:n.5022C=
ENST00000676237.1:c.3095C= ENSP00000501828.1:p.Ala1032=
ENST00000676416.1:c.2852C= ENSP00000501660.1:p.Ala951=
ENST00000676424.1:n.4990C=
ENST00000676429.1:n.7663C=
ENST00000374647.9:c.3194C= ENSP00000363779.5:p.Ala1065=
ENST00000467959.1:n.74C=
ENST00000495759.5:c.334C=
ENST00000537196.1:c.2147C= ENSP00000439367.1:p.Ala716=
NM_003640.3:c.3194C= , LRG_251t1:c.3194C= NP_003631.2:p.Ala1065=
XM_005252285.2:c.2852C= XP_005252342.1:p.Ala951=
XM_011519136.1:c.3194C= XP_011517438.1:p.Ala1065=
XM_011519137.1:c.2852C= XP_011517439.1:p.Ala951=
NM_001318360.1:c.2852C= NP_001305289.1:p.Ala951=
NM_001330749.1:c.2147C= NP_001317678.1:p.Ala716=
NM_003640.4:c.3194C= NP_003631.2:p.Ala1065=
XM_011519136.2:c.3194C= XP_011517438.1:p.Ala1065=
XR_929859.3:n.3583C=
NM_003640.5:c.3194C= MANE Select NP_003631.2:p.Ala1065=
NM_001318360.2:c.2852C= NP_001305289.1:p.Ala951=
NM_001330749.2:c.2147C= NP_001317678.1:p.Ala716=