Canonical Allele Identifier: CA374422999

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662115T>G (hg19) ; chr9:g.108899835T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899835T>G , CM000671.2:g.108899835T>G	GRCh38
NC_000009.11:g.111662115T>G , CM000671.1:g.111662115T>G	GRCh37
NC_000009.10:g.110701936T>G	NCBI36
NG_008788.1:g.39494A>C , LRG_251:g.39494A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2191A>C MANE Select	ENSP00000363779.5:p.Lys731Gln
ENST00000495759.6:c.*801A>C	ENSP00000433514.2:n.*801A>C
ENST00000674535.1:c.2191A>C	ENSP00000502142.1:p.Lys731Gln
ENST00000674704.1:n.3998A>C
ENST00000674836.1:n.2496A>C
ENST00000674890.1:c.2191A>C	ENSP00000501870.1:p.Lys731Gln
ENST00000674938.1:c.1849A>C	ENSP00000502427.1:p.Lys617Gln
ENST00000674948.1:c.1849A>C	ENSP00000501602.1:p.Lys617Gln
ENST00000675052.1:c.2191A>C	ENSP00000502664.1:p.Lys731Gln
ENST00000675078.1:c.2191A>C	ENSP00000501549.1:p.Lys731Gln
ENST00000675215.1:c.*1415A>C	ENSP00000502558.1:n.*1415A>C
ENST00000675233.1:n.4018A>C
ENST00000675321.1:c.2191A>C	ENSP00000502751.1:p.Lys731Gln
ENST00000675325.1:n.3987A>C
ENST00000675335.1:c.2222A>C	ENSP00000502182.1:n.2222A>C
ENST00000675400.1:n.3864A>C
ENST00000675406.1:c.2191A>C	ENSP00000501893.1:p.Lys731Gln
ENST00000675458.1:c.2284A>C	ENSP00000501754.1:n.2284A>C
ENST00000675507.1:n.3987A>C
ENST00000675535.1:c.2191A>C	ENSP00000501667.1:p.Lys731Gln
ENST00000675566.1:n.3987A>C
ENST00000675602.1:n.5239A>C
ENST00000675647.1:n.2496A>C
ENST00000675711.1:c.2191A>C	ENSP00000502485.1:p.Lys731Gln
ENST00000675727.1:c.2191A>C	ENSP00000501722.1:p.Lys731Gln
ENST00000675748.1:n.3825A>C
ENST00000675765.1:c.2191A>C	ENSP00000502640.1:p.Lys731Gln
ENST00000675825.1:c.2191A>C	ENSP00000502632.1:p.Lys731Gln
ENST00000675877.1:n.2496A>C
ENST00000675893.1:c.*3260A>C	ENSP00000502001.1:n.*3260A>C
ENST00000675943.1:n.5806A>C
ENST00000675979.1:c.*1434A>C	ENSP00000502208.1:n.*1434A>C
ENST00000676044.1:c.2191A>C	ENSP00000502378.1:p.Lys731Gln
ENST00000676086.1:n.3976A>C
ENST00000676121.1:n.4019A>C
ENST00000676237.1:c.2092A>C	ENSP00000501828.1:p.Lys698Gln
ENST00000676416.1:c.1849A>C	ENSP00000501660.1:p.Lys617Gln
ENST00000676424.1:n.3987A>C
ENST00000676429.1:n.6660A>C
ENST00000374647.9:c.2191A>C	ENSP00000363779.5:p.Lys731Gln
ENST00000537196.1:c.1144A>C	ENSP00000439367.1:p.Lys382Gln
NM_003640.3:c.2191A>C , LRG_251t1:c.2191A>C	NP_003631.2:p.Lys731Gln
XM_005252285.2:c.1849A>C	XP_005252342.1:p.Lys617Gln
XM_011519136.1:c.2191A>C	XP_011517438.1:p.Lys731Gln
XM_011519137.1:c.1849A>C	XP_011517439.1:p.Lys617Gln
XR_929859.1:n.2507A>C
NM_001318360.1:c.1849A>C	NP_001305289.1:p.Lys617Gln
NM_001330749.1:c.1144A>C	NP_001317678.1:p.Lys382Gln
NM_003640.4:c.2191A>C	NP_003631.2:p.Lys731Gln
XM_011519136.2:c.2191A>C	XP_011517438.1:p.Lys731Gln
XR_929859.3:n.2518A>C
NM_003640.5:c.2191A>C MANE Select	NP_003631.2:p.Lys731Gln
NM_001318360.2:c.1849A>C	NP_001305289.1:p.Lys617Gln
NM_001330749.2:c.1144A>C	NP_001317678.1:p.Lys382Gln