Canonical Allele Identifier: CA5174537

Gene: ELP1

Linked Data

• dbSNP Id: rs750983215
• ExAC: 9:111656285 C / T
• gnomAD v2: 9-111656285-C-T
• gnomAD v3: 9-108894005-C-T
• gnomAD v4: 9-108894005-C-T
• MyVariant Identifiers: chr9:g.111656285C>T (hg19) ; chr9:g.108894005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894005C>T , CM000671.2:g.108894005C>T	GRCh38
NC_000009.11:g.111656285C>T , CM000671.1:g.111656285C>T	GRCh37
NC_000009.10:g.110696106C>T	NCBI36
NG_008788.1:g.45324G>A , LRG_251:g.45324G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2798G>A MANE Select	ENSP00000363779.5:p.Arg933Gln
ENST00000495759.6:c.*1408G>A	ENSP00000433514.2:n.*1408G>A
ENST00000674535.1:c.2798G>A	ENSP00000502142.1:p.Arg933Gln
ENST00000674704.1:n.5883G>A
ENST00000674836.1:n.3411G>A
ENST00000674890.1:c.*33G>A	ENSP00000501870.1:n.*33G>A
ENST00000674938.1:c.2456G>A	ENSP00000502427.1:p.Arg819Gln
ENST00000674948.1:c.2456G>A	ENSP00000501602.1:p.Arg819Gln
ENST00000675052.1:c.2798G>A	ENSP00000502664.1:p.Arg933Gln
ENST00000675078.1:c.2798G>A	ENSP00000501549.1:p.Arg933Gln
ENST00000675215.1:c.*2022G>A	ENSP00000502558.1:n.*2022G>A
ENST00000675233.1:n.4625G>A
ENST00000675321.1:c.2798G>A	ENSP00000502751.1:p.Arg933Gln
ENST00000675325.1:n.4755G>A
ENST00000675335.1:c.2829G>A	ENSP00000502182.1:n.2829G>A
ENST00000675400.1:n.4533G>A
ENST00000675406.1:c.2798G>A	ENSP00000501893.1:p.Arg933Gln
ENST00000675458.1:c.2891G>A	ENSP00000501754.1:n.2891G>A
ENST00000675507.1:n.4594G>A
ENST00000675535.1:c.*425G>A	ENSP00000501667.1:n.*425G>A
ENST00000675566.1:n.4656G>A
ENST00000675602.1:n.5846G>A
ENST00000675647.1:n.3103G>A
ENST00000675711.1:c.2798G>A	ENSP00000502485.1:p.Arg933Gln
ENST00000675727.1:c.2798G>A	ENSP00000501722.1:p.Arg933Gln
ENST00000675748.1:n.4432G>A
ENST00000675765.1:c.*181G>A	ENSP00000502640.1:n.*181G>A
ENST00000675825.1:c.2798G>A	ENSP00000502632.1:p.Arg933Gln
ENST00000675877.1:n.3103G>A
ENST00000675893.1:c.*3867G>A	ENSP00000502001.1:n.*3867G>A
ENST00000675943.1:n.6413G>A
ENST00000675979.1:c.*2041G>A	ENSP00000502208.1:n.*2041G>A
ENST00000676044.1:c.*458G>A	ENSP00000502378.1:n.*458G>A
ENST00000676086.1:n.4583G>A
ENST00000676121.1:n.4626G>A
ENST00000676237.1:c.2699G>A	ENSP00000501828.1:p.Arg900Gln
ENST00000676416.1:c.2456G>A	ENSP00000501660.1:p.Arg819Gln
ENST00000676424.1:n.4594G>A
ENST00000676429.1:n.7267G>A
ENST00000374647.9:c.2798G>A	ENSP00000363779.5:p.Arg933Gln
ENST00000537196.1:c.1751G>A	ENSP00000439367.1:p.Arg584Gln
NM_003640.3:c.2798G>A , LRG_251t1:c.2798G>A	NP_003631.2:p.Arg933Gln
XM_005252285.2:c.2456G>A	XP_005252342.1:p.Arg819Gln
XM_011519136.1:c.2798G>A	XP_011517438.1:p.Arg933Gln
XM_011519137.1:c.2456G>A	XP_011517439.1:p.Arg819Gln
XR_929859.1:n.3176G>A
NM_001318360.1:c.2456G>A	NP_001305289.1:p.Arg819Gln
NM_001330749.1:c.1751G>A	NP_001317678.1:p.Arg584Gln
NM_003640.4:c.2798G>A	NP_003631.2:p.Arg933Gln
XM_011519136.2:c.2798G>A	XP_011517438.1:p.Arg933Gln
XR_929859.3:n.3187G>A
NM_003640.5:c.2798G>A MANE Select	NP_003631.2:p.Arg933Gln
NM_001318360.2:c.2456G>A	NP_001305289.1:p.Arg819Gln
NM_001330749.2:c.1751G>A	NP_001317678.1:p.Arg584Gln