Canonical Allele Identifier: CA5174338

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108881698C>A , CM000671.2:g.108881698C>A	GRCh38
NC_000009.11:g.111643978C>A , CM000671.1:g.111643978C>A	GRCh37
NC_000009.10:g.110683799C>A	NCBI36
NG_008788.1:g.57631G>T , LRG_251:g.57631G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3346+7G>T MANE Select	NP_003631.2:n.3346+7G>T
ENST00000374647.10:c.3346+7G>T MANE Select	ENSP00000363779.5:n.3346+7G>T
NM_001318360.1:c.3004+7G>T	NP_001305289.1:n.3004+7G>T
NM_001318360.2:c.3004+7G>T	NP_001305289.1:n.3004+7G>T
NM_001330749.1:c.2299+7G>T	NP_001317678.1:n.2299+7G>T
NM_001330749.2:c.2299+7G>T	NP_001317678.1:n.2299+7G>T
NM_003640.3:c.3346+7G>T , LRG_251t1:c.3346+7G>T	NP_003631.2:n.3346+7G>T
NM_003640.4:c.3346+7G>T	NP_003631.2:n.3346+7G>T
ENST00000374647.9:c.3346+7G>T	ENSP00000363779.5:n.3346+7G>T
ENST00000467959.1:n.226+7G>T
ENST00000495759.5:c.486+7G>T
ENST00000495759.6:c.*1956+7G>T	ENSP00000433514.2:n.*1956+7G>T
ENST00000537196.1:c.2299+7G>T	ENSP00000439367.1:n.2299+7G>T
ENST00000674535.1:c.3346+7G>T	ENSP00000502142.1:n.3346+7G>T
ENST00000674704.1:n.6431+7G>T
ENST00000674740.1:n.229+7G>T
ENST00000674836.1:n.3959+7G>T
ENST00000674890.1:c.*581+7G>T	ENSP00000501870.1:n.*581+7G>T
ENST00000674938.1:c.3004+7G>T	ENSP00000502427.1:n.3004+7G>T
ENST00000674948.1:c.3004+7G>T	ENSP00000501602.1:n.3004+7G>T
ENST00000675052.1:c.3346+7G>T	ENSP00000502664.1:n.3346+7G>T
ENST00000675078.1:c.3346+7G>T	ENSP00000501549.1:n.3346+7G>T
ENST00000675215.1:c.*2570+7G>T	ENSP00000502558.1:n.*2570+7G>T
ENST00000675233.1:n.5173+7G>T
ENST00000675321.1:c.3346+7G>T	ENSP00000502751.1:n.3346+7G>T
ENST00000675325.1:n.5303+7G>T
ENST00000675335.1:c.3377+7G>T	ENSP00000502182.1:n.3377+7G>T
ENST00000675400.1:n.5198+7G>T
ENST00000675406.1:c.3346+7G>T	ENSP00000501893.1:n.3346+7G>T
ENST00000675458.1:c.3439+7G>T	ENSP00000501754.1:n.3439+7G>T
ENST00000675507.1:n.5142+7G>T
ENST00000675535.1:c.*973+7G>T	ENSP00000501667.1:n.*973+7G>T
ENST00000675566.1:n.5204+7G>T
ENST00000675580.1:n.499+7G>T
ENST00000675602.1:n.6394+7G>T
ENST00000675647.1:n.4510+7G>T
ENST00000675711.1:c.3463+7G>T	ENSP00000502485.1:n.3463+7G>T
ENST00000675727.1:c.3346+7G>T	ENSP00000501722.1:n.3346+7G>T
ENST00000675748.1:n.4980+7G>T
ENST00000675765.1:c.*729+7G>T	ENSP00000502640.1:n.*729+7G>T
ENST00000675825.1:c.3353G>T	ENSP00000502632.1:p.Gly1118Val
ENST00000675877.1:n.3658G>T
ENST00000675893.1:c.*4415+7G>T	ENSP00000502001.1:n.*4415+7G>T
ENST00000675943.1:n.6961+7G>T
ENST00000675979.1:c.*2589+7G>T	ENSP00000502208.1:n.*2589+7G>T
ENST00000676044.1:c.*1006+7G>T	ENSP00000502378.1:n.*1006+7G>T
ENST00000676086.1:n.5131+7G>T
ENST00000676121.1:n.5174+7G>T
ENST00000676237.1:c.3254G>T	ENSP00000501828.1:p.Gly1085Val
ENST00000676416.1:c.3011G>T	ENSP00000501660.1:p.Gly1004Val
ENST00000676424.1:n.5149G>T
ENST00000676429.1:n.7815+7G>T
XM_005252285.2:c.3004+7G>T	XP_005252342.1:n.3004+7G>T
XM_011519136.1:c.3353G>T	XP_011517438.1:p.Gly1118Val
XM_011519136.2:c.3353G>T	XP_011517438.1:p.Gly1118Val
XM_011519137.1:c.3011G>T	XP_011517439.1:p.Gly1004Val
XR_929859.3:n.3735+7G>T