Canonical Allele Identifier: CA466673546

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656275T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893995T>G , CM000671.2:g.108893995T>G	GRCh38
NC_000009.11:g.111656275T>G , CM000671.1:g.111656275T>G	GRCh37
NC_000009.10:g.110696096T>G	NCBI36
NG_008788.1:g.45334A>C , LRG_251:g.45334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2808A>C MANE Select	ENSP00000363779.5:p.Ile936=
ENST00000495759.6:c.*1418A>C	ENSP00000433514.2:n.*1418A>C
ENST00000674535.1:c.2808A>C	ENSP00000502142.1:p.Ile936=
ENST00000674704.1:n.5893A>C
ENST00000674836.1:n.3421A>C
ENST00000674890.1:c.*43A>C	ENSP00000501870.1:n.*43A>C
ENST00000674938.1:c.2466A>C	ENSP00000502427.1:p.Ile822=
ENST00000674948.1:c.2466A>C	ENSP00000501602.1:p.Ile822=
ENST00000675052.1:c.2808A>C	ENSP00000502664.1:p.Ile936=
ENST00000675078.1:c.2808A>C	ENSP00000501549.1:p.Ile936=
ENST00000675215.1:c.*2032A>C	ENSP00000502558.1:n.*2032A>C
ENST00000675233.1:n.4635A>C
ENST00000675321.1:c.2808A>C	ENSP00000502751.1:p.Ile936=
ENST00000675325.1:n.4765A>C
ENST00000675335.1:c.2839A>C	ENSP00000502182.1:n.2839A>C
ENST00000675400.1:n.4543A>C
ENST00000675406.1:c.2808A>C	ENSP00000501893.1:p.Ile936=
ENST00000675458.1:c.2901A>C	ENSP00000501754.1:n.2901A>C
ENST00000675507.1:n.4604A>C
ENST00000675535.1:c.*435A>C	ENSP00000501667.1:n.*435A>C
ENST00000675566.1:n.4666A>C
ENST00000675602.1:n.5856A>C
ENST00000675647.1:n.3113A>C
ENST00000675711.1:c.2808A>C	ENSP00000502485.1:p.Ile936=
ENST00000675727.1:c.2808A>C	ENSP00000501722.1:p.Ile936=
ENST00000675748.1:n.4442A>C
ENST00000675765.1:c.*191A>C	ENSP00000502640.1:n.*191A>C
ENST00000675825.1:c.2808A>C	ENSP00000502632.1:p.Ile936=
ENST00000675877.1:n.3113A>C
ENST00000675893.1:c.*3877A>C	ENSP00000502001.1:n.*3877A>C
ENST00000675943.1:n.6423A>C
ENST00000675979.1:c.*2051A>C	ENSP00000502208.1:n.*2051A>C
ENST00000676044.1:c.*468A>C	ENSP00000502378.1:n.*468A>C
ENST00000676086.1:n.4593A>C
ENST00000676121.1:n.4636A>C
ENST00000676237.1:c.2709A>C	ENSP00000501828.1:p.Ile903=
ENST00000676416.1:c.2466A>C	ENSP00000501660.1:p.Ile822=
ENST00000676424.1:n.4604A>C
ENST00000676429.1:n.7277A>C
ENST00000374647.9:c.2808A>C	ENSP00000363779.5:p.Ile936=
ENST00000537196.1:c.1761A>C	ENSP00000439367.1:p.Ile587=
NM_003640.3:c.2808A>C , LRG_251t1:c.2808A>C	NP_003631.2:p.Ile936=
XM_005252285.2:c.2466A>C	XP_005252342.1:p.Ile822=
XM_011519136.1:c.2808A>C	XP_011517438.1:p.Ile936=
XM_011519137.1:c.2466A>C	XP_011517439.1:p.Ile822=
XR_929859.1:n.3186A>C
NM_001318360.1:c.2466A>C	NP_001305289.1:p.Ile822=
NM_001330749.1:c.1761A>C	NP_001317678.1:p.Ile587=
NM_003640.4:c.2808A>C	NP_003631.2:p.Ile936=
XM_011519136.2:c.2808A>C	XP_011517438.1:p.Ile936=
XR_929859.3:n.3197A>C
NM_003640.5:c.2808A>C MANE Select	NP_003631.2:p.Ile936=
NM_001318360.2:c.2466A>C	NP_001305289.1:p.Ile822=
NM_001330749.2:c.1761A>C	NP_001317678.1:p.Ile587=