Canonical Allele Identifier: CA15606766

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108875024G>T , CM000671.2:g.108875024G>T	GRCh38
NC_000009.11:g.111637304G>T , CM000671.1:g.111637304G>T	GRCh37
NC_000009.10:g.110677125G>T	NCBI36
NG_008788.1:g.64305C>A , LRG_251:g.64305C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3856-54C>A MANE Select	NP_003631.2:n.3856-54C>A
ENST00000374647.10:c.3856-54C>A MANE Select	ENSP00000363779.5:n.3856-54C>A
NM_001318360.1:c.3514-54C>A	NP_001305289.1:n.3514-54C>A
NM_001318360.2:c.3514-54C>A	NP_001305289.1:n.3514-54C>A
NM_001330749.1:c.2809-54C>A	NP_001317678.1:n.2809-54C>A
NM_001330749.2:c.2809-54C>A	NP_001317678.1:n.2809-54C>A
NM_003640.3:c.3856-54C>A , LRG_251t1:c.3856-54C>A	NP_003631.2:n.3856-54C>A
NM_003640.4:c.3856-54C>A	NP_003631.2:n.3856-54C>A
ENST00000374647.9:c.3856-54C>A	ENSP00000363779.5:n.3856-54C>A
ENST00000495759.5:c.1099-54C>A
ENST00000495759.6:c.*2466-54C>A	ENSP00000433514.2:n.*2466-54C>A
ENST00000537196.1:c.2809-54C>A	ENSP00000439367.1:n.2809-54C>A
ENST00000674535.1:c.3855+2971C>A	ENSP00000502142.1:n.3855+2971C>A
ENST00000674704.1:n.6941-54C>A
ENST00000674740.1:n.739-54C>A
ENST00000674836.1:n.4469-54C>A
ENST00000674890.1:c.*1091-54C>A	ENSP00000501870.1:n.*1091-54C>A
ENST00000674938.1:c.3514-54C>A	ENSP00000502427.1:n.3514-54C>A
ENST00000674948.1:c.3514-54C>A	ENSP00000501602.1:n.3514-54C>A
ENST00000675052.1:c.3856-54C>A	ENSP00000502664.1:n.3856-54C>A
ENST00000675078.1:c.*59-54C>A	ENSP00000501549.1:n.*59-54C>A
ENST00000675215.1:c.*3080-54C>A	ENSP00000502558.1:n.*3080-54C>A
ENST00000675233.1:n.5683-54C>A
ENST00000675252.1:n.1678C>A
ENST00000675321.1:c.3744-54C>A	ENSP00000502751.1:n.3744-54C>A
ENST00000675325.1:n.5813-54C>A
ENST00000675335.1:c.3887-54C>A	ENSP00000502182.1:n.3887-54C>A
ENST00000675400.1:n.5708-54C>A
ENST00000675406.1:c.3856-54C>A	ENSP00000501893.1:n.3856-54C>A
ENST00000675458.1:c.3949-54C>A	ENSP00000501754.1:n.3949-54C>A
ENST00000675507.1:n.5755-54C>A
ENST00000675535.1:c.*1483-54C>A	ENSP00000501667.1:n.*1483-54C>A
ENST00000675566.1:n.5714-61C>A
ENST00000675580.1:n.1009-54C>A
ENST00000675602.1:n.6904-54C>A
ENST00000675647.1:n.5020-54C>A
ENST00000675711.1:c.3973-54C>A	ENSP00000502485.1:n.3973-54C>A
ENST00000675727.1:c.*156-54C>A	ENSP00000501722.1:n.*156-54C>A
ENST00000675748.1:n.5490-54C>A
ENST00000675765.1:c.*1239-54C>A	ENSP00000502640.1:n.*1239-54C>A
ENST00000675825.1:c.3898-54C>A	ENSP00000502632.1:n.3898-54C>A
ENST00000675877.1:n.5700-54C>A
ENST00000675893.1:c.*4925-54C>A	ENSP00000502001.1:n.*4925-54C>A
ENST00000675943.1:n.7471-54C>A
ENST00000675979.1:c.*3099-54C>A	ENSP00000502208.1:n.*3099-54C>A
ENST00000676044.1:c.*1516-54C>A	ENSP00000502378.1:n.*1516-54C>A
ENST00000676086.1:n.5641-54C>A
ENST00000676121.1:n.5684-54C>A
ENST00000676162.1:n.585-54C>A
ENST00000676237.1:c.3799-54C>A	ENSP00000501828.1:n.3799-54C>A
ENST00000676416.1:c.3556-54C>A	ENSP00000501660.1:n.3556-54C>A
ENST00000676424.1:n.5694-54C>A
ENST00000676429.1:n.8325-54C>A
XM_005252285.2:c.3514-54C>A	XP_005252342.1:n.3514-54C>A
XM_011519136.1:c.3898-54C>A	XP_011517438.1:n.3898-54C>A
XM_011519136.2:c.3898-54C>A	XP_011517438.1:n.3898-54C>A
XM_011519137.1:c.3556-54C>A	XP_011517439.1:n.3556-54C>A
XR_929859.3:n.4245-54C>A