Canonical Allele Identifier: CA374411388

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878701T>A , CM000671.2:g.108878701T>A	GRCh38
NC_000009.11:g.111640981T>A , CM000671.1:g.111640981T>A	GRCh37
NC_000009.10:g.110680802T>A	NCBI36
NG_008788.1:g.60628A>T , LRG_251:g.60628A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3622A>T MANE Select	NP_003631.2:p.Lys1208Ter
ENST00000374647.10:c.3622A>T MANE Select	ENSP00000363779.5:p.Lys1208Ter
NM_001318360.1:c.3280A>T	NP_001305289.1:p.Lys1094Ter
NM_001318360.2:c.3280A>T	NP_001305289.1:p.Lys1094Ter
NM_001330749.1:c.2575A>T	NP_001317678.1:p.Lys859Ter
NM_001330749.2:c.2575A>T	NP_001317678.1:p.Lys859Ter
NM_003640.3:c.3622A>T , LRG_251t1:c.3622A>T	NP_003631.2:p.Lys1208Ter
NM_003640.4:c.3622A>T	NP_003631.2:p.Lys1208Ter
ENST00000374647.9:c.3622A>T	ENSP00000363779.5:p.Lys1208Ter
ENST00000495759.5:c.762A>T
ENST00000495759.6:c.*2232A>T	ENSP00000433514.2:n.*2232A>T
ENST00000537196.1:c.2575A>T	ENSP00000439367.1:p.Lys859Ter
ENST00000674535.1:c.3622A>T	ENSP00000502142.1:p.Lys1208Ter
ENST00000674704.1:n.6707A>T
ENST00000674740.1:n.505A>T
ENST00000674836.1:n.4235A>T
ENST00000674890.1:c.*857A>T	ENSP00000501870.1:n.*857A>T
ENST00000674938.1:c.3280A>T	ENSP00000502427.1:p.Lys1094Ter
ENST00000674948.1:c.3280A>T	ENSP00000501602.1:p.Lys1094Ter
ENST00000675052.1:c.3622A>T	ENSP00000502664.1:p.Lys1208Ter
ENST00000675062.1:n.668A>T
ENST00000675078.1:c.3622A>T	ENSP00000501549.1:p.Lys1208Ter
ENST00000675215.1:c.*2846A>T	ENSP00000502558.1:n.*2846A>T
ENST00000675233.1:n.5449A>T
ENST00000675321.1:c.3510A>T	ENSP00000502751.1:p.Ser1170=
ENST00000675325.1:n.5579A>T
ENST00000675335.1:c.3653A>T	ENSP00000502182.1:n.3653A>T
ENST00000675370.1:n.288A>T
ENST00000675400.1:n.5474A>T
ENST00000675406.1:c.3622A>T	ENSP00000501893.1:p.Lys1208Ter
ENST00000675458.1:c.3715A>T	ENSP00000501754.1:n.3715A>T
ENST00000675507.1:n.5418A>T
ENST00000675535.1:c.*1249A>T	ENSP00000501667.1:n.*1249A>T
ENST00000675566.1:n.5480A>T
ENST00000675580.1:n.775A>T
ENST00000675602.1:n.6670A>T
ENST00000675647.1:n.4786A>T
ENST00000675711.1:c.3739A>T	ENSP00000502485.1:n.3739A>T
ENST00000675727.1:c.3622A>T	ENSP00000501722.1:p.Lys1208Ter
ENST00000675748.1:n.5256A>T
ENST00000675765.1:c.*1005A>T	ENSP00000502640.1:n.*1005A>T
ENST00000675825.1:c.3664A>T	ENSP00000502632.1:p.Lys1222Ter
ENST00000675877.1:n.5466A>T
ENST00000675893.1:c.*4691A>T	ENSP00000502001.1:n.*4691A>T
ENST00000675943.1:n.7237A>T
ENST00000675979.1:c.*2865A>T	ENSP00000502208.1:n.*2865A>T
ENST00000676044.1:c.*1282A>T	ENSP00000502378.1:n.*1282A>T
ENST00000676086.1:n.5407A>T
ENST00000676121.1:n.5450A>T
ENST00000676162.1:n.351A>T
ENST00000676237.1:c.3565A>T	ENSP00000501828.1:p.Lys1189Ter
ENST00000676416.1:c.3322A>T	ENSP00000501660.1:p.Lys1108Ter
ENST00000676424.1:n.5460A>T
ENST00000676429.1:n.8091A>T
XM_005252285.2:c.3280A>T	XP_005252342.1:p.Lys1094Ter
XM_011519136.1:c.3664A>T	XP_011517438.1:p.Lys1222Ter
XM_011519136.2:c.3664A>T	XP_011517438.1:p.Lys1222Ter
XM_011519137.1:c.3322A>T	XP_011517439.1:p.Lys1108Ter
XR_929859.3:n.4011A>T