Canonical Allele Identifier: CA5174391

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1355840
• ClinVar RCV Id: RCV001876592
• dbSNP Id: rs778318147
• ExAC: 9:111651626 C / T
• gnomAD v2: 9-111651626-C-T
• gnomAD v4: 9-108889346-C-T
• MyVariant Identifiers: chr9:g.111651626C>T (hg19) ; chr9:g.108889346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889346C>T , CM000671.2:g.108889346C>T	GRCh38
NC_000009.11:g.111651626C>T , CM000671.1:g.111651626C>T	GRCh37
NC_000009.10:g.110691447C>T	NCBI36
NG_008788.1:g.49983G>A , LRG_251:g.49983G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3208G>A MANE Select	ENSP00000363779.5:p.Glu1070Lys
ENST00000495759.6:c.*1818G>A	ENSP00000433514.2:n.*1818G>A
ENST00000674535.1:c.3208G>A	ENSP00000502142.1:p.Glu1070Lys
ENST00000674704.1:n.6293G>A
ENST00000674836.1:n.3821G>A
ENST00000674890.1:c.*443G>A	ENSP00000501870.1:n.*443G>A
ENST00000674938.1:c.2866G>A	ENSP00000502427.1:p.Glu956Lys
ENST00000674948.1:c.2866G>A	ENSP00000501602.1:p.Glu956Lys
ENST00000675052.1:c.3208G>A	ENSP00000502664.1:p.Glu1070Lys
ENST00000675078.1:c.3208G>A	ENSP00000501549.1:p.Glu1070Lys
ENST00000675215.1:c.*2432G>A	ENSP00000502558.1:n.*2432G>A
ENST00000675233.1:n.5035G>A
ENST00000675321.1:c.3208G>A	ENSP00000502751.1:p.Glu1070Lys
ENST00000675325.1:n.5165G>A
ENST00000675335.1:c.3239G>A	ENSP00000502182.1:n.3239G>A
ENST00000675400.1:n.4943G>A
ENST00000675406.1:c.3208G>A	ENSP00000501893.1:p.Glu1070Lys
ENST00000675458.1:c.3301G>A	ENSP00000501754.1:n.3301G>A
ENST00000675507.1:n.5004G>A
ENST00000675535.1:c.*835G>A	ENSP00000501667.1:n.*835G>A
ENST00000675566.1:n.5066G>A
ENST00000675602.1:n.6256G>A
ENST00000675647.1:n.4372G>A
ENST00000675711.1:c.3208G>A	ENSP00000502485.1:p.Glu1070Lys
ENST00000675727.1:c.3208G>A	ENSP00000501722.1:p.Glu1070Lys
ENST00000675748.1:n.4842G>A
ENST00000675765.1:c.*591G>A	ENSP00000502640.1:n.*591G>A
ENST00000675825.1:c.3208G>A	ENSP00000502632.1:p.Glu1070Lys
ENST00000675877.1:n.3513G>A
ENST00000675893.1:c.*4277G>A	ENSP00000502001.1:n.*4277G>A
ENST00000675943.1:n.6823G>A
ENST00000675979.1:c.*2451G>A	ENSP00000502208.1:n.*2451G>A
ENST00000676044.1:c.*868G>A	ENSP00000502378.1:n.*868G>A
ENST00000676086.1:n.4993G>A
ENST00000676121.1:n.5036G>A
ENST00000676237.1:c.3109G>A	ENSP00000501828.1:p.Glu1037Lys
ENST00000676416.1:c.2866G>A	ENSP00000501660.1:p.Glu956Lys
ENST00000676424.1:n.5004G>A
ENST00000676429.1:n.7677G>A
ENST00000374647.9:c.3208G>A	ENSP00000363779.5:p.Glu1070Lys
ENST00000467959.1:n.88G>A
ENST00000495759.5:c.348G>A
ENST00000537196.1:c.2161G>A	ENSP00000439367.1:p.Glu721Lys
NM_003640.3:c.3208G>A , LRG_251t1:c.3208G>A	NP_003631.2:p.Glu1070Lys
XM_005252285.2:c.2866G>A	XP_005252342.1:p.Glu956Lys
XM_011519136.1:c.3208G>A	XP_011517438.1:p.Glu1070Lys
XM_011519137.1:c.2866G>A	XP_011517439.1:p.Glu956Lys
NM_001318360.1:c.2866G>A	NP_001305289.1:p.Glu956Lys
NM_001330749.1:c.2161G>A	NP_001317678.1:p.Glu721Lys
NM_003640.4:c.3208G>A	NP_003631.2:p.Glu1070Lys
XM_011519136.2:c.3208G>A	XP_011517438.1:p.Glu1070Lys
XR_929859.3:n.3597G>A
NM_003640.5:c.3208G>A MANE Select	NP_003631.2:p.Glu1070Lys
NM_001318360.2:c.2866G>A	NP_001305289.1:p.Glu956Lys
NM_001330749.2:c.2161G>A	NP_001317678.1:p.Glu721Lys