Canonical Allele Identifier: CA5174204

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878155G>C , CM000671.2:g.108878155G>C	GRCh38
NC_000009.11:g.111640435G>C , CM000671.1:g.111640435G>C	GRCh37
NC_000009.10:g.110680256G>C	NCBI36
NG_008788.1:g.61174C>G , LRG_251:g.61174C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3701-6C>G MANE Select	NP_003631.2:n.3701-6C>G
ENST00000374647.10:c.3701-6C>G MANE Select	ENSP00000363779.5:n.3701-6C>G
NM_001318360.1:c.3359-6C>G	NP_001305289.1:n.3359-6C>G
NM_001318360.2:c.3359-6C>G	NP_001305289.1:n.3359-6C>G
NM_001330749.1:c.2654-6C>G	NP_001317678.1:n.2654-6C>G
NM_001330749.2:c.2654-6C>G	NP_001317678.1:n.2654-6C>G
NM_003640.3:c.3701-6C>G , LRG_251t1:c.3701-6C>G	NP_003631.2:n.3701-6C>G
NM_003640.4:c.3701-6C>G	NP_003631.2:n.3701-6C>G
ENST00000374647.9:c.3701-6C>G	ENSP00000363779.5:n.3701-6C>G
ENST00000495759.5:c.841-6C>G
ENST00000495759.6:c.*2311-6C>G	ENSP00000433514.2:n.*2311-6C>G
ENST00000537196.1:c.2654-6C>G	ENSP00000439367.1:n.2654-6C>G
ENST00000674535.1:c.3701-6C>G	ENSP00000502142.1:n.3701-6C>G
ENST00000674704.1:n.6786-6C>G
ENST00000674740.1:n.584-6C>G
ENST00000674836.1:n.4314-6C>G
ENST00000674890.1:c.*936-6C>G	ENSP00000501870.1:n.*936-6C>G
ENST00000674938.1:c.3359-6C>G	ENSP00000502427.1:n.3359-6C>G
ENST00000674948.1:c.3359-6C>G	ENSP00000501602.1:n.3359-6C>G
ENST00000675052.1:c.3701-6C>G	ENSP00000502664.1:n.3701-6C>G
ENST00000675062.1:n.747-6C>G
ENST00000675078.1:c.3701-6C>G	ENSP00000501549.1:n.3701-6C>G
ENST00000675215.1:c.*2925-6C>G	ENSP00000502558.1:n.*2925-6C>G
ENST00000675233.1:n.5528-6C>G
ENST00000675321.1:c.3589-6C>G	ENSP00000502751.1:n.3589-6C>G
ENST00000675325.1:n.5658-6C>G
ENST00000675335.1:c.3732-6C>G	ENSP00000502182.1:n.3732-6C>G
ENST00000675370.1:n.367-6C>G
ENST00000675400.1:n.5553-6C>G
ENST00000675406.1:c.3701-6C>G	ENSP00000501893.1:n.3701-6C>G
ENST00000675458.1:c.3794-6C>G	ENSP00000501754.1:n.3794-6C>G
ENST00000675507.1:n.5497-6C>G
ENST00000675535.1:c.*1328-6C>G	ENSP00000501667.1:n.*1328-6C>G
ENST00000675566.1:n.5559-6C>G
ENST00000675580.1:n.854-6C>G
ENST00000675602.1:n.6749-6C>G
ENST00000675647.1:n.4865-6C>G
ENST00000675711.1:c.3818-6C>G	ENSP00000502485.1:n.3818-6C>G
ENST00000675727.1:c.3701-6C>G	ENSP00000501722.1:n.3701-6C>G
ENST00000675748.1:n.5335-6C>G
ENST00000675765.1:c.*1084-6C>G	ENSP00000502640.1:n.*1084-6C>G
ENST00000675825.1:c.3743-6C>G	ENSP00000502632.1:n.3743-6C>G
ENST00000675877.1:n.5545-6C>G
ENST00000675893.1:c.*4770-6C>G	ENSP00000502001.1:n.*4770-6C>G
ENST00000675943.1:n.7316-6C>G
ENST00000675979.1:c.*2944-6C>G	ENSP00000502208.1:n.*2944-6C>G
ENST00000676044.1:c.*1361-6C>G	ENSP00000502378.1:n.*1361-6C>G
ENST00000676086.1:n.5486-6C>G
ENST00000676121.1:n.5529-6C>G
ENST00000676162.1:n.430-6C>G
ENST00000676237.1:c.3644-6C>G	ENSP00000501828.1:n.3644-6C>G
ENST00000676416.1:c.3401-6C>G	ENSP00000501660.1:n.3401-6C>G
ENST00000676424.1:n.5539-6C>G
ENST00000676429.1:n.8170-6C>G
XM_005252285.2:c.3359-6C>G	XP_005252342.1:n.3359-6C>G
XM_011519136.1:c.3743-6C>G	XP_011517438.1:n.3743-6C>G
XM_011519136.2:c.3743-6C>G	XP_011517438.1:n.3743-6C>G
XM_011519137.1:c.3401-6C>G	XP_011517439.1:n.3401-6C>G
XR_929859.3:n.4090-6C>G