Canonical Allele Identifier: CA374413345

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108881766C>A , CM000671.2:g.108881766C>A	GRCh38
NC_000009.11:g.111644046C>A , CM000671.1:g.111644046C>A	GRCh37
NC_000009.10:g.110683867C>A	NCBI36
NG_008788.1:g.57563G>T , LRG_251:g.57563G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3286-1G>T MANE Select	NP_003631.2:n.3286-1G>T
ENST00000374647.10:c.3286-1G>T MANE Select	ENSP00000363779.5:n.3286-1G>T
NM_001318360.1:c.2944-1G>T	NP_001305289.1:n.2944-1G>T
NM_001318360.2:c.2944-1G>T	NP_001305289.1:n.2944-1G>T
NM_001330749.1:c.2239-1G>T	NP_001317678.1:n.2239-1G>T
NM_001330749.2:c.2239-1G>T	NP_001317678.1:n.2239-1G>T
NM_003640.3:c.3286-1G>T , LRG_251t1:c.3286-1G>T	NP_003631.2:n.3286-1G>T
NM_003640.4:c.3286-1G>T	NP_003631.2:n.3286-1G>T
ENST00000374647.9:c.3286-1G>T	ENSP00000363779.5:n.3286-1G>T
ENST00000467959.1:n.166-1G>T
ENST00000495759.5:c.426-1G>T
ENST00000495759.6:c.*1896-1G>T	ENSP00000433514.2:n.*1896-1G>T
ENST00000537196.1:c.2239-1G>T	ENSP00000439367.1:n.2239-1G>T
ENST00000674535.1:c.3286-1G>T	ENSP00000502142.1:n.3286-1G>T
ENST00000674704.1:n.6371-1G>T
ENST00000674740.1:n.169-1G>T
ENST00000674836.1:n.3899-1G>T
ENST00000674890.1:c.*521-1G>T	ENSP00000501870.1:n.*521-1G>T
ENST00000674938.1:c.2944-1G>T	ENSP00000502427.1:n.2944-1G>T
ENST00000674948.1:c.2944-1G>T	ENSP00000501602.1:n.2944-1G>T
ENST00000675052.1:c.3286-1G>T	ENSP00000502664.1:n.3286-1G>T
ENST00000675078.1:c.3286-1G>T	ENSP00000501549.1:n.3286-1G>T
ENST00000675215.1:c.*2510-1G>T	ENSP00000502558.1:n.*2510-1G>T
ENST00000675233.1:n.5113-1G>T
ENST00000675321.1:c.3286-1G>T	ENSP00000502751.1:n.3286-1G>T
ENST00000675325.1:n.5243-1G>T
ENST00000675335.1:c.3317-1G>T	ENSP00000502182.1:n.3317-1G>T
ENST00000675400.1:n.5138-1G>T
ENST00000675406.1:c.3286-1G>T	ENSP00000501893.1:n.3286-1G>T
ENST00000675458.1:c.3379-1G>T	ENSP00000501754.1:n.3379-1G>T
ENST00000675507.1:n.5082-1G>T
ENST00000675535.1:c.*913-1G>T	ENSP00000501667.1:n.*913-1G>T
ENST00000675566.1:n.5144-1G>T
ENST00000675580.1:n.439-1G>T
ENST00000675602.1:n.6334-1G>T
ENST00000675647.1:n.4450-1G>T
ENST00000675711.1:c.3403-1G>T	ENSP00000502485.1:n.3403-1G>T
ENST00000675727.1:c.3286-1G>T	ENSP00000501722.1:n.3286-1G>T
ENST00000675748.1:n.4920-1G>T
ENST00000675765.1:c.*669-1G>T	ENSP00000502640.1:n.*669-1G>T
ENST00000675825.1:c.3286-1G>T	ENSP00000502632.1:n.3286-1G>T
ENST00000675877.1:n.3591-1G>T
ENST00000675893.1:c.*4355-1G>T	ENSP00000502001.1:n.*4355-1G>T
ENST00000675943.1:n.6901-1G>T
ENST00000675979.1:c.*2529-1G>T	ENSP00000502208.1:n.*2529-1G>T
ENST00000676044.1:c.*946-1G>T	ENSP00000502378.1:n.*946-1G>T
ENST00000676086.1:n.5071-1G>T
ENST00000676121.1:n.5114-1G>T
ENST00000676237.1:c.3187-1G>T	ENSP00000501828.1:n.3187-1G>T
ENST00000676416.1:c.2944-1G>T	ENSP00000501660.1:n.2944-1G>T
ENST00000676424.1:n.5082-1G>T
ENST00000676429.1:n.7755-1G>T
XM_005252285.2:c.2944-1G>T	XP_005252342.1:n.2944-1G>T
XM_011519136.1:c.3286-1G>T	XP_011517438.1:n.3286-1G>T
XM_011519136.2:c.3286-1G>T	XP_011517438.1:n.3286-1G>T
XM_011519137.1:c.2944-1G>T	XP_011517439.1:n.2944-1G>T
XR_929859.3:n.3675-1G>T