Canonical Allele Identifier: CA374411577

Gene: ELP1

Linked Data

• dbSNP Id: rs1827830021
• gnomAD v3: 9-108879455-C-T
• gnomAD v4: 9-108879455-C-T
• MyVariant Identifiers: chr9:g.111641735C>T (hg19) ; chr9:g.108879455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879455C>T , CM000671.2:g.108879455C>T	GRCh38
NC_000009.11:g.111641735C>T , CM000671.1:g.111641735C>T	GRCh37
NC_000009.10:g.110681556C>T	NCBI36
NG_008788.1:g.59874G>A , LRG_251:g.59874G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3563G>A MANE Select	ENSP00000363779.5:p.Arg1188Lys
ENST00000495759.6:c.*2173G>A	ENSP00000433514.2:n.*2173G>A
ENST00000674535.1:c.3563G>A	ENSP00000502142.1:p.Arg1188Lys
ENST00000674704.1:n.6648G>A
ENST00000674740.1:n.446G>A
ENST00000674836.1:n.4176G>A
ENST00000674890.1:c.*798G>A	ENSP00000501870.1:n.*798G>A
ENST00000674938.1:c.3221G>A	ENSP00000502427.1:p.Arg1074Lys
ENST00000674948.1:c.3221G>A	ENSP00000501602.1:p.Arg1074Lys
ENST00000675052.1:c.3563G>A	ENSP00000502664.1:p.Arg1188Lys
ENST00000675062.1:n.609G>A
ENST00000675078.1:c.3563G>A	ENSP00000501549.1:p.Arg1188Lys
ENST00000675215.1:c.*2787G>A	ENSP00000502558.1:n.*2787G>A
ENST00000675233.1:n.5390G>A
ENST00000675321.1:c.3460+597G>A	ENSP00000502751.1:n.3460+597G>A
ENST00000675325.1:n.5520G>A
ENST00000675335.1:c.3594G>A	ENSP00000502182.1:n.3594G>A
ENST00000675400.1:n.5415G>A
ENST00000675406.1:c.3563G>A	ENSP00000501893.1:p.Arg1188Lys
ENST00000675458.1:c.3656G>A	ENSP00000501754.1:n.3656G>A
ENST00000675507.1:n.5359G>A
ENST00000675535.1:c.*1190G>A	ENSP00000501667.1:n.*1190G>A
ENST00000675566.1:n.5421G>A
ENST00000675580.1:n.716G>A
ENST00000675602.1:n.6611G>A
ENST00000675647.1:n.4727G>A
ENST00000675711.1:c.3680G>A	ENSP00000502485.1:n.3680G>A
ENST00000675727.1:c.3563G>A	ENSP00000501722.1:p.Arg1188Lys
ENST00000675748.1:n.5197G>A
ENST00000675765.1:c.*946G>A	ENSP00000502640.1:n.*946G>A
ENST00000675825.1:c.3605G>A	ENSP00000502632.1:p.Arg1202Lys
ENST00000675877.1:n.5407G>A
ENST00000675893.1:c.*4632G>A	ENSP00000502001.1:n.*4632G>A
ENST00000675943.1:n.7178G>A
ENST00000675979.1:c.*2806G>A	ENSP00000502208.1:n.*2806G>A
ENST00000676044.1:c.*1223G>A	ENSP00000502378.1:n.*1223G>A
ENST00000676086.1:n.5348G>A
ENST00000676121.1:n.5391G>A
ENST00000676162.1:n.292G>A
ENST00000676237.1:c.3506G>A	ENSP00000501828.1:p.Arg1169Lys
ENST00000676416.1:c.3263G>A	ENSP00000501660.1:p.Arg1088Lys
ENST00000676424.1:n.5401G>A
ENST00000676429.1:n.8032G>A
ENST00000374647.9:c.3563G>A	ENSP00000363779.5:p.Arg1188Lys
ENST00000495759.5:c.703G>A
ENST00000537196.1:c.2516G>A	ENSP00000439367.1:p.Arg839Lys
NM_003640.3:c.3563G>A , LRG_251t1:c.3563G>A	NP_003631.2:p.Arg1188Lys
XM_005252285.2:c.3221G>A	XP_005252342.1:p.Arg1074Lys
XM_011519136.1:c.3605G>A	XP_011517438.1:p.Arg1202Lys
XM_011519137.1:c.3263G>A	XP_011517439.1:p.Arg1088Lys
NM_001318360.1:c.3221G>A	NP_001305289.1:p.Arg1074Lys
NM_001330749.1:c.2516G>A	NP_001317678.1:p.Arg839Lys
NM_003640.4:c.3563G>A	NP_003631.2:p.Arg1188Lys
XM_011519136.2:c.3605G>A	XP_011517438.1:p.Arg1202Lys
XR_929859.3:n.3952G>A
NM_003640.5:c.3563G>A MANE Select	NP_003631.2:p.Arg1188Lys
NM_001318360.2:c.3221G>A	NP_001305289.1:p.Arg1074Lys
NM_001330749.2:c.2516G>A	NP_001317678.1:p.Arg839Lys