Canonical Allele Identifier: CA197520314

Gene: ELP1

Linked Data

• ClinVar Variation Id: 957991
• ClinVar RCV Id: RCV001231074 ; RCV001828845 ; RCV002491742
• dbSNP Id: rs201781695
• gnomAD v3: 9-108879467-T-C
• gnomAD v4: 9-108879467-T-C
• MyVariant Identifiers: chr9:g.111641747T>C (hg19) ; chr9:g.108879467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879467T>C , CM000671.2:g.108879467T>C	GRCh38
NC_000009.11:g.111641747T>C , CM000671.1:g.111641747T>C	GRCh37
NC_000009.10:g.110681568T>C	NCBI36
NG_008788.1:g.59862A>G , LRG_251:g.59862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3551A>G MANE Select	ENSP00000363779.5:p.His1184Arg
ENST00000495759.6:c.*2161A>G	ENSP00000433514.2:n.*2161A>G
ENST00000674535.1:c.3551A>G	ENSP00000502142.1:p.His1184Arg
ENST00000674704.1:n.6636A>G
ENST00000674740.1:n.434A>G
ENST00000674836.1:n.4164A>G
ENST00000674890.1:c.*786A>G	ENSP00000501870.1:n.*786A>G
ENST00000674938.1:c.3209A>G	ENSP00000502427.1:p.His1070Arg
ENST00000674948.1:c.3209A>G	ENSP00000501602.1:p.His1070Arg
ENST00000675052.1:c.3551A>G	ENSP00000502664.1:p.His1184Arg
ENST00000675062.1:n.597A>G
ENST00000675078.1:c.3551A>G	ENSP00000501549.1:p.His1184Arg
ENST00000675215.1:c.*2775A>G	ENSP00000502558.1:n.*2775A>G
ENST00000675233.1:n.5378A>G
ENST00000675321.1:c.3460+585A>G	ENSP00000502751.1:n.3460+585A>G
ENST00000675325.1:n.5508A>G
ENST00000675335.1:c.3582A>G	ENSP00000502182.1:n.3582A>G
ENST00000675400.1:n.5403A>G
ENST00000675406.1:c.3551A>G	ENSP00000501893.1:p.His1184Arg
ENST00000675458.1:c.3644A>G	ENSP00000501754.1:n.3644A>G
ENST00000675507.1:n.5347A>G
ENST00000675535.1:c.*1178A>G	ENSP00000501667.1:n.*1178A>G
ENST00000675566.1:n.5409A>G
ENST00000675580.1:n.704A>G
ENST00000675602.1:n.6599A>G
ENST00000675647.1:n.4715A>G
ENST00000675711.1:c.3668A>G	ENSP00000502485.1:n.3668A>G
ENST00000675727.1:c.3551A>G	ENSP00000501722.1:p.His1184Arg
ENST00000675748.1:n.5185A>G
ENST00000675765.1:c.*934A>G	ENSP00000502640.1:n.*934A>G
ENST00000675825.1:c.3593A>G	ENSP00000502632.1:p.His1198Arg
ENST00000675877.1:n.5395A>G
ENST00000675893.1:c.*4620A>G	ENSP00000502001.1:n.*4620A>G
ENST00000675943.1:n.7166A>G
ENST00000675979.1:c.*2794A>G	ENSP00000502208.1:n.*2794A>G
ENST00000676044.1:c.*1211A>G	ENSP00000502378.1:n.*1211A>G
ENST00000676086.1:n.5336A>G
ENST00000676121.1:n.5379A>G
ENST00000676162.1:n.280A>G
ENST00000676237.1:c.3494A>G	ENSP00000501828.1:p.His1165Arg
ENST00000676416.1:c.3251A>G	ENSP00000501660.1:p.His1084Arg
ENST00000676424.1:n.5389A>G
ENST00000676429.1:n.8020A>G
ENST00000374647.9:c.3551A>G	ENSP00000363779.5:p.His1184Arg
ENST00000467959.1:n.431A>G
ENST00000495759.5:c.691A>G
ENST00000537196.1:c.2504A>G	ENSP00000439367.1:p.His835Arg
NM_003640.3:c.3551A>G , LRG_251t1:c.3551A>G	NP_003631.2:p.His1184Arg
XM_005252285.2:c.3209A>G	XP_005252342.1:p.His1070Arg
XM_011519136.1:c.3593A>G	XP_011517438.1:p.His1198Arg
XM_011519137.1:c.3251A>G	XP_011517439.1:p.His1084Arg
NM_001318360.1:c.3209A>G	NP_001305289.1:p.His1070Arg
NM_001330749.1:c.2504A>G	NP_001317678.1:p.His835Arg
NM_003640.4:c.3551A>G	NP_003631.2:p.His1184Arg
XM_011519136.2:c.3593A>G	XP_011517438.1:p.His1198Arg
XR_929859.3:n.3940A>G
NM_003640.5:c.3551A>G MANE Select	NP_003631.2:p.His1184Arg
NM_001318360.2:c.3209A>G	NP_001305289.1:p.His1070Arg
NM_001330749.2:c.2504A>G	NP_001317678.1:p.His835Arg