Canonical Allele Identifier: CA5174340

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108881704C>T , CM000671.2:g.108881704C>T	GRCh38
NC_000009.11:g.111643984C>T , CM000671.1:g.111643984C>T	GRCh37
NC_000009.10:g.110683805C>T	NCBI36
NG_008788.1:g.57625G>A , LRG_251:g.57625G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3346+1G>A MANE Select	NP_003631.2:n.3346+1G>A
ENST00000374647.10:c.3346+1G>A MANE Select	ENSP00000363779.5:n.3346+1G>A
NM_001318360.1:c.3004+1G>A	NP_001305289.1:n.3004+1G>A
NM_001318360.2:c.3004+1G>A	NP_001305289.1:n.3004+1G>A
NM_001330749.1:c.2299+1G>A	NP_001317678.1:n.2299+1G>A
NM_001330749.2:c.2299+1G>A	NP_001317678.1:n.2299+1G>A
NM_003640.3:c.3346+1G>A , LRG_251t1:c.3346+1G>A	NP_003631.2:n.3346+1G>A
NM_003640.4:c.3346+1G>A	NP_003631.2:n.3346+1G>A
ENST00000374647.9:c.3346+1G>A	ENSP00000363779.5:n.3346+1G>A
ENST00000467959.1:n.226+1G>A
ENST00000495759.5:c.486+1G>A
ENST00000495759.6:c.*1956+1G>A	ENSP00000433514.2:n.*1956+1G>A
ENST00000537196.1:c.2299+1G>A	ENSP00000439367.1:n.2299+1G>A
ENST00000674535.1:c.3346+1G>A	ENSP00000502142.1:n.3346+1G>A
ENST00000674704.1:n.6431+1G>A
ENST00000674740.1:n.229+1G>A
ENST00000674836.1:n.3959+1G>A
ENST00000674890.1:c.*581+1G>A	ENSP00000501870.1:n.*581+1G>A
ENST00000674938.1:c.3004+1G>A	ENSP00000502427.1:n.3004+1G>A
ENST00000674948.1:c.3004+1G>A	ENSP00000501602.1:n.3004+1G>A
ENST00000675052.1:c.3346+1G>A	ENSP00000502664.1:n.3346+1G>A
ENST00000675078.1:c.3346+1G>A	ENSP00000501549.1:n.3346+1G>A
ENST00000675215.1:c.*2570+1G>A	ENSP00000502558.1:n.*2570+1G>A
ENST00000675233.1:n.5173+1G>A
ENST00000675321.1:c.3346+1G>A	ENSP00000502751.1:n.3346+1G>A
ENST00000675325.1:n.5303+1G>A
ENST00000675335.1:c.3377+1G>A	ENSP00000502182.1:n.3377+1G>A
ENST00000675400.1:n.5198+1G>A
ENST00000675406.1:c.3346+1G>A	ENSP00000501893.1:n.3346+1G>A
ENST00000675458.1:c.3439+1G>A	ENSP00000501754.1:n.3439+1G>A
ENST00000675507.1:n.5142+1G>A
ENST00000675535.1:c.*973+1G>A	ENSP00000501667.1:n.*973+1G>A
ENST00000675566.1:n.5204+1G>A
ENST00000675580.1:n.499+1G>A
ENST00000675602.1:n.6394+1G>A
ENST00000675647.1:n.4510+1G>A
ENST00000675711.1:c.3463+1G>A	ENSP00000502485.1:n.3463+1G>A
ENST00000675727.1:c.3346+1G>A	ENSP00000501722.1:n.3346+1G>A
ENST00000675748.1:n.4980+1G>A
ENST00000675765.1:c.*729+1G>A	ENSP00000502640.1:n.*729+1G>A
ENST00000675825.1:c.3347G>A	ENSP00000502632.1:p.Gly1116Asp
ENST00000675877.1:n.3652G>A
ENST00000675893.1:c.*4415+1G>A	ENSP00000502001.1:n.*4415+1G>A
ENST00000675943.1:n.6961+1G>A
ENST00000675979.1:c.*2589+1G>A	ENSP00000502208.1:n.*2589+1G>A
ENST00000676044.1:c.*1006+1G>A	ENSP00000502378.1:n.*1006+1G>A
ENST00000676086.1:n.5131+1G>A
ENST00000676121.1:n.5174+1G>A
ENST00000676237.1:c.3248G>A	ENSP00000501828.1:p.Gly1083Asp
ENST00000676416.1:c.3005G>A	ENSP00000501660.1:p.Gly1002Asp
ENST00000676424.1:n.5143G>A
ENST00000676429.1:n.7815+1G>A
XM_005252285.2:c.3004+1G>A	XP_005252342.1:n.3004+1G>A
XM_011519136.1:c.3347G>A	XP_011517438.1:p.Gly1116Asp
XM_011519136.2:c.3347G>A	XP_011517438.1:p.Gly1116Asp
XM_011519137.1:c.3005G>A	XP_011517439.1:p.Gly1002Asp
XR_929859.3:n.3735+1G>A