Canonical Allele Identifier: CA374414983
Community Standard Title: NM_003640.5(ELP1):c.3175C>T (p.Gln1059Ter)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108889379G>A , CM000671.2:g.108889379G>A GRCh38
NC_000009.11:g.111651659G>A , CM000671.1:g.111651659G>A GRCh37
NC_000009.10:g.110691480G>A NCBI36
NG_008788.1:g.49950C>T , LRG_251:g.49950C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.3175C>T MANE Select NP_003631.2:p.Gln1059Ter
ENST00000374647.10:c.3175C>T MANE Select ENSP00000363779.5:p.Gln1059Ter
NM_001318360.1:c.2833C>T NP_001305289.1:p.Gln945Ter
NM_001318360.2:c.2833C>T NP_001305289.1:p.Gln945Ter
NM_001330749.1:c.2128C>T NP_001317678.1:p.Gln710Ter
NM_001330749.2:c.2128C>T NP_001317678.1:p.Gln710Ter
NM_003640.3:c.3175C>T , LRG_251t1:c.3175C>T NP_003631.2:p.Gln1059Ter
NM_003640.4:c.3175C>T NP_003631.2:p.Gln1059Ter
ENST00000374647.9:c.3175C>T ENSP00000363779.5:p.Gln1059Ter
ENST00000467959.1:n.55C>T
ENST00000495759.5:c.315C>T
ENST00000495759.6:c.*1785C>T ENSP00000433514.2:n.*1785C>T
ENST00000537196.1:c.2128C>T ENSP00000439367.1:p.Gln710Ter
ENST00000674535.1:c.3175C>T ENSP00000502142.1:p.Gln1059Ter
ENST00000674704.1:n.6260C>T
ENST00000674836.1:n.3788C>T
ENST00000674890.1:c.*410C>T ENSP00000501870.1:n.*410C>T
ENST00000674938.1:c.2833C>T ENSP00000502427.1:p.Gln945Ter
ENST00000674948.1:c.2833C>T ENSP00000501602.1:p.Gln945Ter
ENST00000675052.1:c.3175C>T ENSP00000502664.1:p.Gln1059Ter
ENST00000675078.1:c.3175C>T ENSP00000501549.1:p.Gln1059Ter
ENST00000675215.1:c.*2399C>T ENSP00000502558.1:n.*2399C>T
ENST00000675233.1:n.5002C>T
ENST00000675321.1:c.3175C>T ENSP00000502751.1:p.Gln1059Ter
ENST00000675325.1:n.5132C>T
ENST00000675335.1:c.3206C>T ENSP00000502182.1:n.3206C>T
ENST00000675400.1:n.4910C>T
ENST00000675406.1:c.3175C>T ENSP00000501893.1:p.Gln1059Ter
ENST00000675458.1:c.3268C>T ENSP00000501754.1:n.3268C>T
ENST00000675507.1:n.4971C>T
ENST00000675535.1:c.*802C>T ENSP00000501667.1:n.*802C>T
ENST00000675566.1:n.5033C>T
ENST00000675602.1:n.6223C>T
ENST00000675647.1:n.4339C>T
ENST00000675711.1:c.3175C>T ENSP00000502485.1:p.Gln1059Ter
ENST00000675727.1:c.3175C>T ENSP00000501722.1:p.Gln1059Ter
ENST00000675748.1:n.4809C>T
ENST00000675765.1:c.*558C>T ENSP00000502640.1:n.*558C>T
ENST00000675825.1:c.3175C>T ENSP00000502632.1:p.Gln1059Ter
ENST00000675877.1:n.3480C>T
ENST00000675893.1:c.*4244C>T ENSP00000502001.1:n.*4244C>T
ENST00000675943.1:n.6790C>T
ENST00000675979.1:c.*2418C>T ENSP00000502208.1:n.*2418C>T
ENST00000676044.1:c.*835C>T ENSP00000502378.1:n.*835C>T
ENST00000676086.1:n.4960C>T
ENST00000676121.1:n.5003C>T
ENST00000676237.1:c.3076C>T ENSP00000501828.1:p.Gln1026Ter
ENST00000676416.1:c.2833C>T ENSP00000501660.1:p.Gln945Ter
ENST00000676424.1:n.4971C>T
ENST00000676429.1:n.7644C>T
XM_005252285.2:c.2833C>T XP_005252342.1:p.Gln945Ter
XM_011519136.1:c.3175C>T XP_011517438.1:p.Gln1059Ter
XM_011519136.2:c.3175C>T XP_011517438.1:p.Gln1059Ter
XM_011519137.1:c.2833C>T XP_011517439.1:p.Gln945Ter
XR_929859.3:n.3564C>T