Canonical Allele Identifier: CA374425821
Community Standard Title: NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108902913T>A , CM000671.2:g.108902913T>A GRCh38
NC_000009.11:g.111665193T>A , CM000671.1:g.111665193T>A GRCh37
NC_000009.10:g.110705014T>A NCBI36
NG_008788.1:g.36416A>T , LRG_251:g.36416A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.1780A>T MANE Select NP_003631.2:p.Lys594Ter
ENST00000374647.10:c.1780A>T MANE Select ENSP00000363779.5:p.Lys594Ter
NM_001318360.1:c.1438A>T NP_001305289.1:p.Lys480Ter
NM_001318360.2:c.1438A>T NP_001305289.1:p.Lys480Ter
NM_001330749.1:c.733A>T NP_001317678.1:p.Lys245Ter
NM_001330749.2:c.733A>T NP_001317678.1:p.Lys245Ter
NM_003640.3:c.1780A>T , LRG_251t1:c.1780A>T NP_003631.2:p.Lys594Ter
NM_003640.4:c.1780A>T NP_003631.2:p.Lys594Ter
ENST00000374647.9:c.1780A>T ENSP00000363779.5:p.Lys594Ter
ENST00000495759.6:c.*390A>T ENSP00000433514.2:n.*390A>T
ENST00000537196.1:c.733A>T ENSP00000439367.1:p.Lys245Ter
ENST00000674535.1:c.1780A>T ENSP00000502142.1:p.Lys594Ter
ENST00000674704.1:n.3587A>T
ENST00000674836.1:n.2085A>T
ENST00000674890.1:c.1780A>T ENSP00000501870.1:p.Lys594Ter
ENST00000674938.1:c.1438A>T ENSP00000502427.1:p.Lys480Ter
ENST00000674948.1:c.1438A>T ENSP00000501602.1:p.Lys480Ter
ENST00000675052.1:c.1780A>T ENSP00000502664.1:p.Lys594Ter
ENST00000675078.1:c.1780A>T ENSP00000501549.1:p.Lys594Ter
ENST00000675215.1:c.*1004A>T ENSP00000502558.1:n.*1004A>T
ENST00000675233.1:n.3607A>T
ENST00000675321.1:c.1780A>T ENSP00000502751.1:p.Lys594Ter
ENST00000675325.1:n.3576A>T
ENST00000675335.1:c.1811A>T ENSP00000502182.1:n.1811A>T
ENST00000675400.1:n.3453A>T
ENST00000675406.1:c.1780A>T ENSP00000501893.1:p.Lys594Ter
ENST00000675458.1:c.1873A>T ENSP00000501754.1:n.1873A>T
ENST00000675507.1:n.3576A>T
ENST00000675535.1:c.1780A>T ENSP00000501667.1:p.Lys594Ter
ENST00000675566.1:n.3576A>T
ENST00000675602.1:n.4828A>T
ENST00000675647.1:n.2085A>T
ENST00000675711.1:c.1780A>T ENSP00000502485.1:p.Lys594Ter
ENST00000675727.1:c.1780A>T ENSP00000501722.1:p.Lys594Ter
ENST00000675748.1:n.3414A>T
ENST00000675765.1:c.1780A>T ENSP00000502640.1:p.Lys594Ter
ENST00000675825.1:c.1780A>T ENSP00000502632.1:p.Lys594Ter
ENST00000675877.1:n.2085A>T
ENST00000675893.1:c.*2849A>T ENSP00000502001.1:n.*2849A>T
ENST00000675943.1:n.5395A>T
ENST00000675979.1:c.*1023A>T ENSP00000502208.1:n.*1023A>T
ENST00000676044.1:c.1780A>T ENSP00000502378.1:p.Lys594Ter
ENST00000676086.1:n.3565A>T
ENST00000676121.1:n.3608A>T
ENST00000676237.1:c.1681A>T ENSP00000501828.1:p.Lys561Ter
ENST00000676416.1:c.1438A>T ENSP00000501660.1:p.Lys480Ter
ENST00000676424.1:n.3576A>T
ENST00000676429.1:n.6249A>T
XM_005252285.2:c.1438A>T XP_005252342.1:p.Lys480Ter
XM_011519136.1:c.1780A>T XP_011517438.1:p.Lys594Ter
XM_011519136.2:c.1780A>T XP_011517438.1:p.Lys594Ter
XM_011519137.1:c.1438A>T XP_011517439.1:p.Lys480Ter
XR_929859.1:n.2096A>T
XR_929859.3:n.2107A>T