Canonical Allele Identifier: CA5174269
Community Standard Title: NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108879476T>C , CM000671.2:g.108879476T>C GRCh38
NC_000009.11:g.111641756T>C , CM000671.1:g.111641756T>C GRCh37
NC_000009.10:g.110681577T>C NCBI36
NG_008788.1:g.59853A>G , LRG_251:g.59853A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.3542A>G MANE Select NP_003631.2:p.Lys1181Arg
ENST00000374647.10:c.3542A>G MANE Select ENSP00000363779.5:p.Lys1181Arg
NM_001318360.1:c.3200A>G NP_001305289.1:p.Lys1067Arg
NM_001318360.2:c.3200A>G NP_001305289.1:p.Lys1067Arg
NM_001330749.1:c.2495A>G NP_001317678.1:p.Lys832Arg
NM_001330749.2:c.2495A>G NP_001317678.1:p.Lys832Arg
NM_003640.3:c.3542A>G , LRG_251t1:c.3542A>G NP_003631.2:p.Lys1181Arg
NM_003640.4:c.3542A>G NP_003631.2:p.Lys1181Arg
ENST00000374647.9:c.3542A>G ENSP00000363779.5:p.Lys1181Arg
ENST00000467959.1:n.422A>G
ENST00000495759.5:c.682A>G
ENST00000495759.6:c.*2152A>G ENSP00000433514.2:n.*2152A>G
ENST00000537196.1:c.2495A>G ENSP00000439367.1:p.Lys832Arg
ENST00000674535.1:c.3542A>G ENSP00000502142.1:p.Lys1181Arg
ENST00000674704.1:n.6627A>G
ENST00000674740.1:n.425A>G
ENST00000674836.1:n.4155A>G
ENST00000674890.1:c.*777A>G ENSP00000501870.1:n.*777A>G
ENST00000674938.1:c.3200A>G ENSP00000502427.1:p.Lys1067Arg
ENST00000674948.1:c.3200A>G ENSP00000501602.1:p.Lys1067Arg
ENST00000675052.1:c.3542A>G ENSP00000502664.1:p.Lys1181Arg
ENST00000675062.1:n.588A>G
ENST00000675078.1:c.3542A>G ENSP00000501549.1:p.Lys1181Arg
ENST00000675215.1:c.*2766A>G ENSP00000502558.1:n.*2766A>G
ENST00000675233.1:n.5369A>G
ENST00000675321.1:c.3460+576A>G ENSP00000502751.1:n.3460+576A>G
ENST00000675325.1:n.5499A>G
ENST00000675335.1:c.3573A>G ENSP00000502182.1:n.3573A>G
ENST00000675400.1:n.5394A>G
ENST00000675406.1:c.3542A>G ENSP00000501893.1:p.Lys1181Arg
ENST00000675458.1:c.3635A>G ENSP00000501754.1:n.3635A>G
ENST00000675507.1:n.5338A>G
ENST00000675535.1:c.*1169A>G ENSP00000501667.1:n.*1169A>G
ENST00000675566.1:n.5400A>G
ENST00000675580.1:n.695A>G
ENST00000675602.1:n.6590A>G
ENST00000675647.1:n.4706A>G
ENST00000675711.1:c.3659A>G ENSP00000502485.1:n.3659A>G
ENST00000675727.1:c.3542A>G ENSP00000501722.1:p.Lys1181Arg
ENST00000675748.1:n.5176A>G
ENST00000675765.1:c.*925A>G ENSP00000502640.1:n.*925A>G
ENST00000675825.1:c.3584A>G ENSP00000502632.1:p.Lys1195Arg
ENST00000675877.1:n.5386A>G
ENST00000675893.1:c.*4611A>G ENSP00000502001.1:n.*4611A>G
ENST00000675943.1:n.7157A>G
ENST00000675979.1:c.*2785A>G ENSP00000502208.1:n.*2785A>G
ENST00000676044.1:c.*1202A>G ENSP00000502378.1:n.*1202A>G
ENST00000676086.1:n.5327A>G
ENST00000676121.1:n.5370A>G
ENST00000676162.1:n.271A>G
ENST00000676237.1:c.3485A>G ENSP00000501828.1:p.Lys1162Arg
ENST00000676416.1:c.3242A>G ENSP00000501660.1:p.Lys1081Arg
ENST00000676424.1:n.5380A>G
ENST00000676429.1:n.8011A>G
XM_005252285.2:c.3200A>G XP_005252342.1:p.Lys1067Arg
XM_011519136.1:c.3584A>G XP_011517438.1:p.Lys1195Arg
XM_011519136.2:c.3584A>G XP_011517438.1:p.Lys1195Arg
XM_011519137.1:c.3242A>G XP_011517439.1:p.Lys1081Arg
XR_929859.3:n.3931A>G