Canonical Allele Identifier: CA2573143741

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1391848
• ClinVar RCV Id: RCV001893299
• dbSNP Id: rs2118938912

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879546dup , CM000671.2:g.108879546dup	GRCh38
NC_000009.11:g.111641826dup , CM000671.1:g.111641826dup	GRCh37
NC_000009.10:g.110681647dup	NCBI36
NG_008788.1:g.59786dup , LRG_251:g.59786dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3475dup MANE Select	ENSP00000363779.5:p.His1159ProfsTer10
ENST00000495759.6:c.*2085dup	ENSP00000433514.2:n.*2085dup
ENST00000674535.1:c.3475dup	ENSP00000502142.1:p.His1159ProfsTer10
ENST00000674704.1:n.6560dup
ENST00000674740.1:n.358dup
ENST00000674836.1:n.4088dup
ENST00000674890.1:c.*710dup	ENSP00000501870.1:n.*710dup
ENST00000674938.1:c.3133dup	ENSP00000502427.1:p.His1045ProfsTer10
ENST00000674948.1:c.3133dup	ENSP00000501602.1:p.His1045ProfsTer10
ENST00000675052.1:c.3475dup	ENSP00000502664.1:p.His1159ProfsTer10
ENST00000675062.1:n.521dup
ENST00000675078.1:c.3475dup	ENSP00000501549.1:p.His1159ProfsTer10
ENST00000675215.1:c.*2699dup	ENSP00000502558.1:n.*2699dup
ENST00000675233.1:n.5302dup
ENST00000675321.1:c.3460+509dup	ENSP00000502751.1:n.3460+509dup
ENST00000675325.1:n.5432dup
ENST00000675335.1:c.3506dup	ENSP00000502182.1:n.3506dup
ENST00000675400.1:n.5327dup
ENST00000675406.1:c.3475dup	ENSP00000501893.1:p.His1159ProfsTer10
ENST00000675458.1:c.3568dup	ENSP00000501754.1:n.3568dup
ENST00000675507.1:n.5271dup
ENST00000675535.1:c.*1102dup	ENSP00000501667.1:n.*1102dup
ENST00000675566.1:n.5333dup
ENST00000675580.1:n.628dup
ENST00000675602.1:n.6523dup
ENST00000675647.1:n.4639dup
ENST00000675711.1:c.3592dup	ENSP00000502485.1:n.3592dup
ENST00000675727.1:c.3475dup	ENSP00000501722.1:p.His1159ProfsTer10
ENST00000675748.1:n.5109dup
ENST00000675765.1:c.*858dup	ENSP00000502640.1:n.*858dup
ENST00000675825.1:c.3517dup	ENSP00000502632.1:p.His1173ProfsTer10
ENST00000675877.1:n.5319dup
ENST00000675893.1:c.*4544dup	ENSP00000502001.1:n.*4544dup
ENST00000675943.1:n.7090dup
ENST00000675979.1:c.*2718dup	ENSP00000502208.1:n.*2718dup
ENST00000676044.1:c.*1135dup	ENSP00000502378.1:n.*1135dup
ENST00000676086.1:n.5260dup
ENST00000676121.1:n.5303dup
ENST00000676162.1:n.204dup
ENST00000676237.1:c.3418dup	ENSP00000501828.1:p.His1140ProfsTer10
ENST00000676416.1:c.3175dup	ENSP00000501660.1:p.His1059ProfsTer10
ENST00000676424.1:n.5313dup
ENST00000676429.1:n.7944dup
ENST00000374647.9:c.3475dup	ENSP00000363779.5:p.His1159ProfsTer10
ENST00000467959.1:n.355dup
ENST00000495759.5:c.615dup
ENST00000537196.1:c.2428dup	ENSP00000439367.1:p.His810ProfsTer10
NM_003640.3:c.3475dup , LRG_251t1:c.3475dup	NP_003631.2:p.His1159ProfsTer10
XM_005252285.2:c.3133dup	XP_005252342.1:p.His1045ProfsTer10
XM_011519136.1:c.3517dup	XP_011517438.1:p.His1173ProfsTer10
XM_011519137.1:c.3175dup	XP_011517439.1:p.His1059ProfsTer10
NM_001318360.1:c.3133dup	NP_001305289.1:p.His1045ProfsTer10
NM_001330749.1:c.2428dup	NP_001317678.1:p.His810ProfsTer10
NM_003640.4:c.3475dup	NP_003631.2:p.His1159ProfsTer10
XM_011519136.2:c.3517dup	XP_011517438.1:p.His1173ProfsTer10
XR_929859.3:n.3864dup
NM_003640.5:c.3475dup MANE Select	NP_003631.2:p.His1159ProfsTer10
NM_001318360.2:c.3133dup	NP_001305289.1:p.His1045ProfsTer10
NM_001330749.2:c.2428dup	NP_001317678.1:p.His810ProfsTer10