Canonical Allele Identifier: CA374420272

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108896951A>C , CM000671.2:g.108896951A>C	GRCh38
NC_000009.11:g.111659231A>C , CM000671.1:g.111659231A>C	GRCh37
NC_000009.10:g.110699052A>C	NCBI36
NG_008788.1:g.42378T>G , LRG_251:g.42378T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.2587+2T>G MANE Select	NP_003631.2:n.2587+2T>G
ENST00000374647.10:c.2587+2T>G MANE Select	ENSP00000363779.5:n.2587+2T>G
NM_001318360.1:c.2245+2T>G	NP_001305289.1:n.2245+2T>G
NM_001318360.2:c.2245+2T>G	NP_001305289.1:n.2245+2T>G
NM_001330749.1:c.1540+2T>G	NP_001317678.1:n.1540+2T>G
NM_001330749.2:c.1540+2T>G	NP_001317678.1:n.1540+2T>G
NM_003640.3:c.2587+2T>G , LRG_251t1:c.2587+2T>G	NP_003631.2:n.2587+2T>G
NM_003640.4:c.2587+2T>G	NP_003631.2:n.2587+2T>G
ENST00000374647.9:c.2587+2T>G	ENSP00000363779.5:n.2587+2T>G
ENST00000495759.6:c.*1197+2T>G	ENSP00000433514.2:n.*1197+2T>G
ENST00000537196.1:c.1540+2T>G	ENSP00000439367.1:n.1540+2T>G
ENST00000674535.1:c.2587+2T>G	ENSP00000502142.1:n.2587+2T>G
ENST00000674704.1:n.5612T>G
ENST00000674836.1:n.2894T>G
ENST00000674890.1:c.2587+2T>G	ENSP00000501870.1:n.2587+2T>G
ENST00000674938.1:c.2245+2T>G	ENSP00000502427.1:n.2245+2T>G
ENST00000674948.1:c.2245+2T>G	ENSP00000501602.1:n.2245+2T>G
ENST00000675052.1:c.2587+2T>G	ENSP00000502664.1:n.2587+2T>G
ENST00000675078.1:c.2587+2T>G	ENSP00000501549.1:n.2587+2T>G
ENST00000675215.1:c.*1811+2T>G	ENSP00000502558.1:n.*1811+2T>G
ENST00000675233.1:n.4414+2T>G
ENST00000675321.1:c.2587+2T>G	ENSP00000502751.1:n.2587+2T>G
ENST00000675325.1:n.4484T>G
ENST00000675335.1:c.2618+2T>G	ENSP00000502182.1:n.2618+2T>G
ENST00000675400.1:n.4262T>G
ENST00000675406.1:c.2587+2T>G	ENSP00000501893.1:n.2587+2T>G
ENST00000675458.1:c.2680+2T>G	ENSP00000501754.1:n.2680+2T>G
ENST00000675507.1:n.4383+2T>G
ENST00000675535.1:c.*154T>G	ENSP00000501667.1:n.*154T>G
ENST00000675566.1:n.4385T>G
ENST00000675602.1:n.5635+2T>G
ENST00000675647.1:n.2892+2T>G
ENST00000675711.1:c.2587+2T>G	ENSP00000502485.1:n.2587+2T>G
ENST00000675727.1:c.2587+2T>G	ENSP00000501722.1:n.2587+2T>G
ENST00000675748.1:n.4221+2T>G
ENST00000675765.1:c.2589T>G	ENSP00000502640.1:p.Gly863=
ENST00000675825.1:c.2587+2T>G	ENSP00000502632.1:n.2587+2T>G
ENST00000675877.1:n.2892+2T>G
ENST00000675893.1:c.*3656+2T>G	ENSP00000502001.1:n.*3656+2T>G
ENST00000675943.1:n.6202+2T>G
ENST00000675979.1:c.*1830+2T>G	ENSP00000502208.1:n.*1830+2T>G
ENST00000676044.1:c.*247+2T>G	ENSP00000502378.1:n.*247+2T>G
ENST00000676086.1:n.4372+2T>G
ENST00000676121.1:n.4415+2T>G
ENST00000676237.1:c.2488+2T>G	ENSP00000501828.1:n.2488+2T>G
ENST00000676416.1:c.2245+2T>G	ENSP00000501660.1:n.2245+2T>G
ENST00000676424.1:n.4383+2T>G
ENST00000676429.1:n.7056+2T>G
XM_005252285.2:c.2245+2T>G	XP_005252342.1:n.2245+2T>G
XM_011519136.1:c.2587+2T>G	XP_011517438.1:n.2587+2T>G
XM_011519136.2:c.2587+2T>G	XP_011517438.1:n.2587+2T>G
XM_011519137.1:c.2245+2T>G	XP_011517439.1:n.2245+2T>G
XR_929859.1:n.2905T>G
XR_929859.3:n.2916T>G