Canonical Allele Identifier: CA5174534

Gene: ELP1

Linked Data

• ClinVar Variation Id: 581293
• ClinVar RCV Id: RCV000705075 ; RCV001342880 ; RCV002499270
• dbSNP Id: rs776891269
• ExAC: 9:111656282 A / C
• gnomAD v2: 9-111656282-A-C
• gnomAD v4: 9-108894002-A-C
• MyVariant Identifiers: chr9:g.111656282A>C (hg19) ; chr9:g.108894002A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894002A>C , CM000671.2:g.108894002A>C	GRCh38
NC_000009.11:g.111656282A>C , CM000671.1:g.111656282A>C	GRCh37
NC_000009.10:g.110696103A>C	NCBI36
NG_008788.1:g.45327T>G , LRG_251:g.45327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2801T>G MANE Select	ENSP00000363779.5:p.Phe934Cys
ENST00000495759.6:c.*1411T>G	ENSP00000433514.2:n.*1411T>G
ENST00000674535.1:c.2801T>G	ENSP00000502142.1:p.Phe934Cys
ENST00000674704.1:n.5886T>G
ENST00000674836.1:n.3414T>G
ENST00000674890.1:c.*36T>G	ENSP00000501870.1:n.*36T>G
ENST00000674938.1:c.2459T>G	ENSP00000502427.1:p.Phe820Cys
ENST00000674948.1:c.2459T>G	ENSP00000501602.1:p.Phe820Cys
ENST00000675052.1:c.2801T>G	ENSP00000502664.1:p.Phe934Cys
ENST00000675078.1:c.2801T>G	ENSP00000501549.1:p.Phe934Cys
ENST00000675215.1:c.*2025T>G	ENSP00000502558.1:n.*2025T>G
ENST00000675233.1:n.4628T>G
ENST00000675321.1:c.2801T>G	ENSP00000502751.1:p.Phe934Cys
ENST00000675325.1:n.4758T>G
ENST00000675335.1:c.2832T>G	ENSP00000502182.1:n.2832T>G
ENST00000675400.1:n.4536T>G
ENST00000675406.1:c.2801T>G	ENSP00000501893.1:p.Phe934Cys
ENST00000675458.1:c.2894T>G	ENSP00000501754.1:n.2894T>G
ENST00000675507.1:n.4597T>G
ENST00000675535.1:c.*428T>G	ENSP00000501667.1:n.*428T>G
ENST00000675566.1:n.4659T>G
ENST00000675602.1:n.5849T>G
ENST00000675647.1:n.3106T>G
ENST00000675711.1:c.2801T>G	ENSP00000502485.1:p.Phe934Cys
ENST00000675727.1:c.2801T>G	ENSP00000501722.1:p.Phe934Cys
ENST00000675748.1:n.4435T>G
ENST00000675765.1:c.*184T>G	ENSP00000502640.1:n.*184T>G
ENST00000675825.1:c.2801T>G	ENSP00000502632.1:p.Phe934Cys
ENST00000675877.1:n.3106T>G
ENST00000675893.1:c.*3870T>G	ENSP00000502001.1:n.*3870T>G
ENST00000675943.1:n.6416T>G
ENST00000675979.1:c.*2044T>G	ENSP00000502208.1:n.*2044T>G
ENST00000676044.1:c.*461T>G	ENSP00000502378.1:n.*461T>G
ENST00000676086.1:n.4586T>G
ENST00000676121.1:n.4629T>G
ENST00000676237.1:c.2702T>G	ENSP00000501828.1:p.Phe901Cys
ENST00000676416.1:c.2459T>G	ENSP00000501660.1:p.Phe820Cys
ENST00000676424.1:n.4597T>G
ENST00000676429.1:n.7270T>G
ENST00000374647.9:c.2801T>G	ENSP00000363779.5:p.Phe934Cys
ENST00000537196.1:c.1754T>G	ENSP00000439367.1:p.Phe585Cys
NM_003640.3:c.2801T>G , LRG_251t1:c.2801T>G	NP_003631.2:p.Phe934Cys
XM_005252285.2:c.2459T>G	XP_005252342.1:p.Phe820Cys
XM_011519136.1:c.2801T>G	XP_011517438.1:p.Phe934Cys
XM_011519137.1:c.2459T>G	XP_011517439.1:p.Phe820Cys
XR_929859.1:n.3179T>G
NM_001318360.1:c.2459T>G	NP_001305289.1:p.Phe820Cys
NM_001330749.1:c.1754T>G	NP_001317678.1:p.Phe585Cys
NM_003640.4:c.2801T>G	NP_003631.2:p.Phe934Cys
XM_011519136.2:c.2801T>G	XP_011517438.1:p.Phe934Cys
XR_929859.3:n.3190T>G
NM_003640.5:c.2801T>G MANE Select	NP_003631.2:p.Phe934Cys
NM_001318360.2:c.2459T>G	NP_001305289.1:p.Phe820Cys
NM_001330749.2:c.1754T>G	NP_001317678.1:p.Phe585Cys