Canonical Allele Identifier: CA374411526

Gene: ELP1

Linked Data

• gnomAD v4: 9-108879446-G-T
• MyVariant Identifiers: chr9:g.111641726G>T (hg19) ; chr9:g.108879446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879446G>T , CM000671.2:g.108879446G>T	GRCh38
NC_000009.11:g.111641726G>T , CM000671.1:g.111641726G>T	GRCh37
NC_000009.10:g.110681547G>T	NCBI36
NG_008788.1:g.59883C>A , LRG_251:g.59883C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3572C>A MANE Select	ENSP00000363779.5:p.Ala1191Glu
ENST00000495759.6:c.*2182C>A	ENSP00000433514.2:n.*2182C>A
ENST00000674535.1:c.3572C>A	ENSP00000502142.1:p.Ala1191Glu
ENST00000674704.1:n.6657C>A
ENST00000674740.1:n.455C>A
ENST00000674836.1:n.4185C>A
ENST00000674890.1:c.*807C>A	ENSP00000501870.1:n.*807C>A
ENST00000674938.1:c.3230C>A	ENSP00000502427.1:p.Ala1077Glu
ENST00000674948.1:c.3230C>A	ENSP00000501602.1:p.Ala1077Glu
ENST00000675052.1:c.3572C>A	ENSP00000502664.1:p.Ala1191Glu
ENST00000675062.1:n.618C>A
ENST00000675078.1:c.3572C>A	ENSP00000501549.1:p.Ala1191Glu
ENST00000675215.1:c.*2796C>A	ENSP00000502558.1:n.*2796C>A
ENST00000675233.1:n.5399C>A
ENST00000675321.1:c.3460+606C>A	ENSP00000502751.1:n.3460+606C>A
ENST00000675325.1:n.5529C>A
ENST00000675335.1:c.3603C>A	ENSP00000502182.1:n.3603C>A
ENST00000675400.1:n.5424C>A
ENST00000675406.1:c.3572C>A	ENSP00000501893.1:p.Ala1191Glu
ENST00000675458.1:c.3665C>A	ENSP00000501754.1:n.3665C>A
ENST00000675507.1:n.5368C>A
ENST00000675535.1:c.*1199C>A	ENSP00000501667.1:n.*1199C>A
ENST00000675566.1:n.5430C>A
ENST00000675580.1:n.725C>A
ENST00000675602.1:n.6620C>A
ENST00000675647.1:n.4736C>A
ENST00000675711.1:c.3689C>A	ENSP00000502485.1:n.3689C>A
ENST00000675727.1:c.3572C>A	ENSP00000501722.1:p.Ala1191Glu
ENST00000675748.1:n.5206C>A
ENST00000675765.1:c.*955C>A	ENSP00000502640.1:n.*955C>A
ENST00000675825.1:c.3614C>A	ENSP00000502632.1:p.Ala1205Glu
ENST00000675877.1:n.5416C>A
ENST00000675893.1:c.*4641C>A	ENSP00000502001.1:n.*4641C>A
ENST00000675943.1:n.7187C>A
ENST00000675979.1:c.*2815C>A	ENSP00000502208.1:n.*2815C>A
ENST00000676044.1:c.*1232C>A	ENSP00000502378.1:n.*1232C>A
ENST00000676086.1:n.5357C>A
ENST00000676121.1:n.5400C>A
ENST00000676162.1:n.301C>A
ENST00000676237.1:c.3515C>A	ENSP00000501828.1:p.Ala1172Glu
ENST00000676416.1:c.3272C>A	ENSP00000501660.1:p.Ala1091Glu
ENST00000676424.1:n.5410C>A
ENST00000676429.1:n.8041C>A
ENST00000374647.9:c.3572C>A	ENSP00000363779.5:p.Ala1191Glu
ENST00000495759.5:c.712C>A
ENST00000537196.1:c.2525C>A	ENSP00000439367.1:p.Ala842Glu
NM_003640.3:c.3572C>A , LRG_251t1:c.3572C>A	NP_003631.2:p.Ala1191Glu
XM_005252285.2:c.3230C>A	XP_005252342.1:p.Ala1077Glu
XM_011519136.1:c.3614C>A	XP_011517438.1:p.Ala1205Glu
XM_011519137.1:c.3272C>A	XP_011517439.1:p.Ala1091Glu
NM_001318360.1:c.3230C>A	NP_001305289.1:p.Ala1077Glu
NM_001330749.1:c.2525C>A	NP_001317678.1:p.Ala842Glu
NM_003640.4:c.3572C>A	NP_003631.2:p.Ala1191Glu
XM_011519136.2:c.3614C>A	XP_011517438.1:p.Ala1205Glu
XR_929859.3:n.3961C>A
NM_003640.5:c.3572C>A MANE Select	NP_003631.2:p.Ala1191Glu
NM_001318360.2:c.3230C>A	NP_001305289.1:p.Ala1077Glu
NM_001330749.2:c.2525C>A	NP_001317678.1:p.Ala842Glu