Canonical Allele Identifier: CA374420300
Community Standard Title: NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108896956G>A , CM000671.2:g.108896956G>A GRCh38
NC_000009.11:g.111659236G>A , CM000671.1:g.111659236G>A GRCh37
NC_000009.10:g.110699057G>A NCBI36
NG_008788.1:g.42373C>T , LRG_251:g.42373C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2584C>T MANE Select NP_003631.2:p.Gln862Ter
ENST00000374647.10:c.2584C>T MANE Select ENSP00000363779.5:p.Gln862Ter
NM_001318360.1:c.2242C>T NP_001305289.1:p.Gln748Ter
NM_001318360.2:c.2242C>T NP_001305289.1:p.Gln748Ter
NM_001330749.1:c.1537C>T NP_001317678.1:p.Gln513Ter
NM_001330749.2:c.1537C>T NP_001317678.1:p.Gln513Ter
NM_003640.3:c.2584C>T , LRG_251t1:c.2584C>T NP_003631.2:p.Gln862Ter
NM_003640.4:c.2584C>T NP_003631.2:p.Gln862Ter
ENST00000374647.9:c.2584C>T ENSP00000363779.5:p.Gln862Ter
ENST00000495759.6:c.*1194C>T ENSP00000433514.2:n.*1194C>T
ENST00000537196.1:c.1537C>T ENSP00000439367.1:p.Gln513Ter
ENST00000674535.1:c.2584C>T ENSP00000502142.1:p.Gln862Ter
ENST00000674704.1:n.5607C>T
ENST00000674836.1:n.2889C>T
ENST00000674890.1:c.2584C>T ENSP00000501870.1:p.Gln862Ter
ENST00000674938.1:c.2242C>T ENSP00000502427.1:p.Gln748Ter
ENST00000674948.1:c.2242C>T ENSP00000501602.1:p.Gln748Ter
ENST00000675052.1:c.2584C>T ENSP00000502664.1:p.Gln862Ter
ENST00000675078.1:c.2584C>T ENSP00000501549.1:p.Gln862Ter
ENST00000675215.1:c.*1808C>T ENSP00000502558.1:n.*1808C>T
ENST00000675233.1:n.4411C>T
ENST00000675321.1:c.2584C>T ENSP00000502751.1:p.Gln862Ter
ENST00000675325.1:n.4479C>T
ENST00000675335.1:c.2615C>T ENSP00000502182.1:n.2615C>T
ENST00000675400.1:n.4257C>T
ENST00000675406.1:c.2584C>T ENSP00000501893.1:p.Gln862Ter
ENST00000675458.1:c.2677C>T ENSP00000501754.1:n.2677C>T
ENST00000675507.1:n.4380C>T
ENST00000675535.1:c.*149C>T ENSP00000501667.1:n.*149C>T
ENST00000675566.1:n.4380C>T
ENST00000675602.1:n.5632C>T
ENST00000675647.1:n.2889C>T
ENST00000675711.1:c.2584C>T ENSP00000502485.1:p.Gln862Ter
ENST00000675727.1:c.2584C>T ENSP00000501722.1:p.Gln862Ter
ENST00000675748.1:n.4218C>T
ENST00000675765.1:c.2584C>T ENSP00000502640.1:p.Gln862Ter
ENST00000675825.1:c.2584C>T ENSP00000502632.1:p.Gln862Ter
ENST00000675877.1:n.2889C>T
ENST00000675893.1:c.*3653C>T ENSP00000502001.1:n.*3653C>T
ENST00000675943.1:n.6199C>T
ENST00000675979.1:c.*1827C>T ENSP00000502208.1:n.*1827C>T
ENST00000676044.1:c.*244C>T ENSP00000502378.1:n.*244C>T
ENST00000676086.1:n.4369C>T
ENST00000676121.1:n.4412C>T
ENST00000676237.1:c.2485C>T ENSP00000501828.1:p.Gln829Ter
ENST00000676416.1:c.2242C>T ENSP00000501660.1:p.Gln748Ter
ENST00000676424.1:n.4380C>T
ENST00000676429.1:n.7053C>T
XM_005252285.2:c.2242C>T XP_005252342.1:p.Gln748Ter
XM_011519136.1:c.2584C>T XP_011517438.1:p.Gln862Ter
XM_011519136.2:c.2584C>T XP_011517438.1:p.Gln862Ter
XM_011519137.1:c.2242C>T XP_011517439.1:p.Gln748Ter
XR_929859.1:n.2900C>T
XR_929859.3:n.2911C>T