Canonical Allele Identifier: CA374410514

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108877993A>C , CM000671.2:g.108877993A>C	GRCh38
NC_000009.11:g.111640273A>C , CM000671.1:g.111640273A>C	GRCh37
NC_000009.10:g.110680094A>C	NCBI36
NG_008788.1:g.61336T>G , LRG_251:g.61336T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3855+2T>G MANE Select	NP_003631.2:n.3855+2T>G
ENST00000374647.10:c.3855+2T>G MANE Select	ENSP00000363779.5:n.3855+2T>G
NM_001318360.1:c.3513+2T>G	NP_001305289.1:n.3513+2T>G
NM_001318360.2:c.3513+2T>G	NP_001305289.1:n.3513+2T>G
NM_001330749.1:c.2808+2T>G	NP_001317678.1:n.2808+2T>G
NM_001330749.2:c.2808+2T>G	NP_001317678.1:n.2808+2T>G
NM_003640.3:c.3855+2T>G , LRG_251t1:c.3855+2T>G	NP_003631.2:n.3855+2T>G
NM_003640.4:c.3855+2T>G	NP_003631.2:n.3855+2T>G
ENST00000374647.9:c.3855+2T>G	ENSP00000363779.5:n.3855+2T>G
ENST00000495759.5:c.995+2T>G
ENST00000495759.6:c.*2465+2T>G	ENSP00000433514.2:n.*2465+2T>G
ENST00000537196.1:c.2808+2T>G	ENSP00000439367.1:n.2808+2T>G
ENST00000674535.1:c.3855+2T>G	ENSP00000502142.1:n.3855+2T>G
ENST00000674704.1:n.6940+2T>G
ENST00000674740.1:n.738+2T>G
ENST00000674836.1:n.4468+2T>G
ENST00000674890.1:c.*1090+2T>G	ENSP00000501870.1:n.*1090+2T>G
ENST00000674938.1:c.3513+2T>G	ENSP00000502427.1:n.3513+2T>G
ENST00000674948.1:c.3513+2T>G	ENSP00000501602.1:n.3513+2T>G
ENST00000675052.1:c.3855+2T>G	ENSP00000502664.1:n.3855+2T>G
ENST00000675062.1:n.903T>G
ENST00000675078.1:c.3855+2T>G	ENSP00000501549.1:n.3855+2T>G
ENST00000675215.1:c.*3079+2T>G	ENSP00000502558.1:n.*3079+2T>G
ENST00000675233.1:n.5682+2T>G
ENST00000675321.1:c.3743+2T>G	ENSP00000502751.1:n.3743+2T>G
ENST00000675325.1:n.5812+2T>G
ENST00000675335.1:c.3886+2T>G	ENSP00000502182.1:n.3886+2T>G
ENST00000675370.1:n.523T>G
ENST00000675400.1:n.5707+2T>G
ENST00000675406.1:c.3855+2T>G	ENSP00000501893.1:n.3855+2T>G
ENST00000675458.1:c.3948+2T>G	ENSP00000501754.1:n.3948+2T>G
ENST00000675507.1:n.5651+2T>G
ENST00000675535.1:c.*1482+2T>G	ENSP00000501667.1:n.*1482+2T>G
ENST00000675566.1:n.5713+2T>G
ENST00000675580.1:n.1008+2T>G
ENST00000675602.1:n.6903+2T>G
ENST00000675647.1:n.5019+2T>G
ENST00000675711.1:c.3972+2T>G	ENSP00000502485.1:n.3972+2T>G
ENST00000675727.1:c.3855+2T>G	ENSP00000501722.1:n.3855+2T>G
ENST00000675748.1:n.5489+2T>G
ENST00000675765.1:c.*1238+2T>G	ENSP00000502640.1:n.*1238+2T>G
ENST00000675825.1:c.3897+2T>G	ENSP00000502632.1:n.3897+2T>G
ENST00000675877.1:n.5699+2T>G
ENST00000675893.1:c.*4924+2T>G	ENSP00000502001.1:n.*4924+2T>G
ENST00000675943.1:n.7470+2T>G
ENST00000675979.1:c.*3098+2T>G	ENSP00000502208.1:n.*3098+2T>G
ENST00000676044.1:c.*1515+2T>G	ENSP00000502378.1:n.*1515+2T>G
ENST00000676086.1:n.5640+2T>G
ENST00000676121.1:n.5683+2T>G
ENST00000676162.1:n.584+2T>G
ENST00000676237.1:c.3798+2T>G	ENSP00000501828.1:n.3798+2T>G
ENST00000676416.1:c.3555+2T>G	ENSP00000501660.1:n.3555+2T>G
ENST00000676424.1:n.5693+2T>G
ENST00000676429.1:n.8324+2T>G
XM_005252285.2:c.3513+2T>G	XP_005252342.1:n.3513+2T>G
XM_011519136.1:c.3897+2T>G	XP_011517438.1:n.3897+2T>G
XM_011519136.2:c.3897+2T>G	XP_011517438.1:n.3897+2T>G
XM_011519137.1:c.3555+2T>G	XP_011517439.1:n.3555+2T>G
XR_929859.3:n.4244+2T>G