Canonical Allele Identifier: CA197522172

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108881708C>A , CM000671.2:g.108881708C>A	GRCh38
NC_000009.11:g.111643988C>A , CM000671.1:g.111643988C>A	GRCh37
NC_000009.10:g.110683809C>A	NCBI36
NG_008788.1:g.57621G>T , LRG_251:g.57621G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3343G>T MANE Select	NP_003631.2:p.Glu1115Ter
ENST00000374647.10:c.3343G>T MANE Select	ENSP00000363779.5:p.Glu1115Ter
NM_001318360.1:c.3001G>T	NP_001305289.1:p.Glu1001Ter
NM_001318360.2:c.3001G>T	NP_001305289.1:p.Glu1001Ter
NM_001330749.1:c.2296G>T	NP_001317678.1:p.Glu766Ter
NM_001330749.2:c.2296G>T	NP_001317678.1:p.Glu766Ter
NM_003640.3:c.3343G>T , LRG_251t1:c.3343G>T	NP_003631.2:p.Glu1115Ter
NM_003640.4:c.3343G>T	NP_003631.2:p.Glu1115Ter
ENST00000374647.9:c.3343G>T	ENSP00000363779.5:p.Glu1115Ter
ENST00000467959.1:n.223G>T
ENST00000495759.5:c.483G>T
ENST00000495759.6:c.*1953G>T	ENSP00000433514.2:n.*1953G>T
ENST00000537196.1:c.2296G>T	ENSP00000439367.1:p.Glu766Ter
ENST00000674535.1:c.3343G>T	ENSP00000502142.1:p.Glu1115Ter
ENST00000674704.1:n.6428G>T
ENST00000674740.1:n.226G>T
ENST00000674836.1:n.3956G>T
ENST00000674890.1:c.*578G>T	ENSP00000501870.1:n.*578G>T
ENST00000674938.1:c.3001G>T	ENSP00000502427.1:p.Glu1001Ter
ENST00000674948.1:c.3001G>T	ENSP00000501602.1:p.Glu1001Ter
ENST00000675052.1:c.3343G>T	ENSP00000502664.1:p.Glu1115Ter
ENST00000675078.1:c.3343G>T	ENSP00000501549.1:p.Glu1115Ter
ENST00000675215.1:c.*2567G>T	ENSP00000502558.1:n.*2567G>T
ENST00000675233.1:n.5170G>T
ENST00000675321.1:c.3343G>T	ENSP00000502751.1:p.Glu1115Ter
ENST00000675325.1:n.5300G>T
ENST00000675335.1:c.3374G>T	ENSP00000502182.1:n.3374G>T
ENST00000675400.1:n.5195G>T
ENST00000675406.1:c.3343G>T	ENSP00000501893.1:p.Glu1115Ter
ENST00000675458.1:c.3436G>T	ENSP00000501754.1:n.3436G>T
ENST00000675507.1:n.5139G>T
ENST00000675535.1:c.*970G>T	ENSP00000501667.1:n.*970G>T
ENST00000675566.1:n.5201G>T
ENST00000675580.1:n.496G>T
ENST00000675602.1:n.6391G>T
ENST00000675647.1:n.4507G>T
ENST00000675711.1:c.3460G>T	ENSP00000502485.1:n.3460G>T
ENST00000675727.1:c.3343G>T	ENSP00000501722.1:p.Glu1115Ter
ENST00000675748.1:n.4977G>T
ENST00000675765.1:c.*726G>T	ENSP00000502640.1:n.*726G>T
ENST00000675825.1:c.3343G>T	ENSP00000502632.1:p.Glu1115Ter
ENST00000675877.1:n.3648G>T
ENST00000675893.1:c.*4412G>T	ENSP00000502001.1:n.*4412G>T
ENST00000675943.1:n.6958G>T
ENST00000675979.1:c.*2586G>T	ENSP00000502208.1:n.*2586G>T
ENST00000676044.1:c.*1003G>T	ENSP00000502378.1:n.*1003G>T
ENST00000676086.1:n.5128G>T
ENST00000676121.1:n.5171G>T
ENST00000676237.1:c.3244G>T	ENSP00000501828.1:p.Glu1082Ter
ENST00000676416.1:c.3001G>T	ENSP00000501660.1:p.Glu1001Ter
ENST00000676424.1:n.5139G>T
ENST00000676429.1:n.7812G>T
XM_005252285.2:c.3001G>T	XP_005252342.1:p.Glu1001Ter
XM_011519136.1:c.3343G>T	XP_011517438.1:p.Glu1115Ter
XM_011519136.2:c.3343G>T	XP_011517438.1:p.Glu1115Ter
XM_011519137.1:c.3001G>T	XP_011517439.1:p.Glu1001Ter
XR_929859.3:n.3732G>T