Canonical Allele Identifier: CA374418715

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893944A>T , CM000671.2:g.108893944A>T	GRCh38
NC_000009.11:g.111656224A>T , CM000671.1:g.111656224A>T	GRCh37
NC_000009.10:g.110696045A>T	NCBI36
NG_008788.1:g.45385T>A , LRG_251:g.45385T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.2859T>A MANE Select	NP_003631.2:p.Cys953Ter
ENST00000374647.10:c.2859T>A MANE Select	ENSP00000363779.5:p.Cys953Ter
NM_001318360.1:c.2517T>A	NP_001305289.1:p.Cys839Ter
NM_001318360.2:c.2517T>A	NP_001305289.1:p.Cys839Ter
NM_001330749.1:c.1812T>A	NP_001317678.1:p.Cys604Ter
NM_001330749.2:c.1812T>A	NP_001317678.1:p.Cys604Ter
NM_003640.3:c.2859T>A , LRG_251t1:c.2859T>A	NP_003631.2:p.Cys953Ter
NM_003640.4:c.2859T>A	NP_003631.2:p.Cys953Ter
ENST00000374647.9:c.2859T>A	ENSP00000363779.5:p.Cys953Ter
ENST00000495759.6:c.*1469T>A	ENSP00000433514.2:n.*1469T>A
ENST00000537196.1:c.1812T>A	ENSP00000439367.1:p.Cys604Ter
ENST00000674535.1:c.2859T>A	ENSP00000502142.1:p.Cys953Ter
ENST00000674704.1:n.5944T>A
ENST00000674836.1:n.3472T>A
ENST00000674890.1:c.*94T>A	ENSP00000501870.1:n.*94T>A
ENST00000674938.1:c.2517T>A	ENSP00000502427.1:p.Cys839Ter
ENST00000674948.1:c.2517T>A	ENSP00000501602.1:p.Cys839Ter
ENST00000675052.1:c.2859T>A	ENSP00000502664.1:p.Cys953Ter
ENST00000675078.1:c.2859T>A	ENSP00000501549.1:p.Cys953Ter
ENST00000675215.1:c.*2083T>A	ENSP00000502558.1:n.*2083T>A
ENST00000675233.1:n.4686T>A
ENST00000675321.1:c.2859T>A	ENSP00000502751.1:p.Cys953Ter
ENST00000675325.1:n.4816T>A
ENST00000675335.1:c.2890T>A	ENSP00000502182.1:n.2890T>A
ENST00000675400.1:n.4594T>A
ENST00000675406.1:c.2859T>A	ENSP00000501893.1:p.Cys953Ter
ENST00000675458.1:c.2952T>A	ENSP00000501754.1:n.2952T>A
ENST00000675507.1:n.4655T>A
ENST00000675535.1:c.*486T>A	ENSP00000501667.1:n.*486T>A
ENST00000675566.1:n.4717T>A
ENST00000675602.1:n.5907T>A
ENST00000675647.1:n.3164T>A
ENST00000675711.1:c.2859T>A	ENSP00000502485.1:p.Cys953Ter
ENST00000675727.1:c.2859T>A	ENSP00000501722.1:p.Cys953Ter
ENST00000675748.1:n.4493T>A
ENST00000675765.1:c.*242T>A	ENSP00000502640.1:n.*242T>A
ENST00000675825.1:c.2859T>A	ENSP00000502632.1:p.Cys953Ter
ENST00000675877.1:n.3164T>A
ENST00000675893.1:c.*3928T>A	ENSP00000502001.1:n.*3928T>A
ENST00000675943.1:n.6474T>A
ENST00000675979.1:c.*2102T>A	ENSP00000502208.1:n.*2102T>A
ENST00000676044.1:c.*519T>A	ENSP00000502378.1:n.*519T>A
ENST00000676086.1:n.4644T>A
ENST00000676121.1:n.4687T>A
ENST00000676237.1:c.2760T>A	ENSP00000501828.1:p.Cys920Ter
ENST00000676416.1:c.2517T>A	ENSP00000501660.1:p.Cys839Ter
ENST00000676424.1:n.4655T>A
ENST00000676429.1:n.7328T>A
XM_005252285.2:c.2517T>A	XP_005252342.1:p.Cys839Ter
XM_011519136.1:c.2859T>A	XP_011517438.1:p.Cys953Ter
XM_011519136.2:c.2859T>A	XP_011517438.1:p.Cys953Ter
XM_011519137.1:c.2517T>A	XP_011517439.1:p.Cys839Ter
XR_929859.1:n.3237T>A
XR_929859.3:n.3248T>A