Canonical Allele Identifier: CA197520229

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879434T>A , CM000671.2:g.108879434T>A	GRCh38
NC_000009.11:g.111641714T>A , CM000671.1:g.111641714T>A	GRCh37
NC_000009.10:g.110681535T>A	NCBI36
NG_008788.1:g.59895A>T , LRG_251:g.59895A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3572+12A>T MANE Select	NP_003631.2:n.3572+12A>T
ENST00000374647.10:c.3572+12A>T MANE Select	ENSP00000363779.5:n.3572+12A>T
NM_001318360.1:c.3230+12A>T	NP_001305289.1:n.3230+12A>T
NM_001318360.2:c.3230+12A>T	NP_001305289.1:n.3230+12A>T
NM_001330749.1:c.2525+12A>T	NP_001317678.1:n.2525+12A>T
NM_001330749.2:c.2525+12A>T	NP_001317678.1:n.2525+12A>T
NM_003640.3:c.3572+12A>T , LRG_251t1:c.3572+12A>T	NP_003631.2:n.3572+12A>T
NM_003640.4:c.3572+12A>T	NP_003631.2:n.3572+12A>T
ENST00000374647.9:c.3572+12A>T	ENSP00000363779.5:n.3572+12A>T
ENST00000495759.5:c.712+12A>T
ENST00000495759.6:c.*2182+12A>T	ENSP00000433514.2:n.*2182+12A>T
ENST00000537196.1:c.2525+12A>T	ENSP00000439367.1:n.2525+12A>T
ENST00000674535.1:c.3572+12A>T	ENSP00000502142.1:n.3572+12A>T
ENST00000674704.1:n.6657+12A>T
ENST00000674740.1:n.455+12A>T
ENST00000674836.1:n.4185+12A>T
ENST00000674890.1:c.*807+12A>T	ENSP00000501870.1:n.*807+12A>T
ENST00000674938.1:c.3230+12A>T	ENSP00000502427.1:n.3230+12A>T
ENST00000674948.1:c.3230+12A>T	ENSP00000501602.1:n.3230+12A>T
ENST00000675052.1:c.3572+12A>T	ENSP00000502664.1:n.3572+12A>T
ENST00000675062.1:n.618+12A>T
ENST00000675078.1:c.3572+12A>T	ENSP00000501549.1:n.3572+12A>T
ENST00000675215.1:c.*2796+12A>T	ENSP00000502558.1:n.*2796+12A>T
ENST00000675233.1:n.5399+12A>T
ENST00000675321.1:c.3460+618A>T	ENSP00000502751.1:n.3460+618A>T
ENST00000675325.1:n.5529+12A>T
ENST00000675335.1:c.3603+12A>T	ENSP00000502182.1:n.3603+12A>T
ENST00000675400.1:n.5424+12A>T
ENST00000675406.1:c.3572+12A>T	ENSP00000501893.1:n.3572+12A>T
ENST00000675458.1:c.3665+12A>T	ENSP00000501754.1:n.3665+12A>T
ENST00000675507.1:n.5368+12A>T
ENST00000675535.1:c.*1199+12A>T	ENSP00000501667.1:n.*1199+12A>T
ENST00000675566.1:n.5430+12A>T
ENST00000675580.1:n.725+12A>T
ENST00000675602.1:n.6620+12A>T
ENST00000675647.1:n.4736+12A>T
ENST00000675711.1:c.3689+12A>T	ENSP00000502485.1:n.3689+12A>T
ENST00000675727.1:c.3572+12A>T	ENSP00000501722.1:n.3572+12A>T
ENST00000675748.1:n.5206+12A>T
ENST00000675765.1:c.*955+12A>T	ENSP00000502640.1:n.*955+12A>T
ENST00000675825.1:c.3614+12A>T	ENSP00000502632.1:n.3614+12A>T
ENST00000675877.1:n.5416+12A>T
ENST00000675893.1:c.*4641+12A>T	ENSP00000502001.1:n.*4641+12A>T
ENST00000675943.1:n.7187+12A>T
ENST00000675979.1:c.*2815+12A>T	ENSP00000502208.1:n.*2815+12A>T
ENST00000676044.1:c.*1232+12A>T	ENSP00000502378.1:n.*1232+12A>T
ENST00000676086.1:n.5357+12A>T
ENST00000676121.1:n.5400+12A>T
ENST00000676162.1:n.301+12A>T
ENST00000676237.1:c.3515+12A>T	ENSP00000501828.1:n.3515+12A>T
ENST00000676416.1:c.3272+12A>T	ENSP00000501660.1:n.3272+12A>T
ENST00000676424.1:n.5410+12A>T
ENST00000676429.1:n.8041+12A>T
XM_005252285.2:c.3230+12A>T	XP_005252342.1:n.3230+12A>T
XM_011519136.1:c.3614+12A>T	XP_011517438.1:n.3614+12A>T
XM_011519136.2:c.3614+12A>T	XP_011517438.1:n.3614+12A>T
XM_011519137.1:c.3272+12A>T	XP_011517439.1:n.3272+12A>T
XR_929859.3:n.3961+12A>T