Canonical Allele Identifier: CA374414998

Gene: ELP1

Linked Data

• dbSNP Id: rs1236583859
• gnomAD v2: 9-111651662-C-T
• gnomAD v4: 9-108889382-C-T
• MyVariant Identifiers: chr9:g.111651662C>T (hg19) ; chr9:g.108889382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889382C>T , CM000671.2:g.108889382C>T	GRCh38
NC_000009.11:g.111651662C>T , CM000671.1:g.111651662C>T	GRCh37
NC_000009.10:g.110691483C>T	NCBI36
NG_008788.1:g.49947G>A , LRG_251:g.49947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3172G>A MANE Select	ENSP00000363779.5:p.Glu1058Lys
ENST00000495759.6:c.*1782G>A	ENSP00000433514.2:n.*1782G>A
ENST00000674535.1:c.3172G>A	ENSP00000502142.1:p.Glu1058Lys
ENST00000674704.1:n.6257G>A
ENST00000674836.1:n.3785G>A
ENST00000674890.1:c.*407G>A	ENSP00000501870.1:n.*407G>A
ENST00000674938.1:c.2830G>A	ENSP00000502427.1:p.Glu944Lys
ENST00000674948.1:c.2830G>A	ENSP00000501602.1:p.Glu944Lys
ENST00000675052.1:c.3172G>A	ENSP00000502664.1:p.Glu1058Lys
ENST00000675078.1:c.3172G>A	ENSP00000501549.1:p.Glu1058Lys
ENST00000675215.1:c.*2396G>A	ENSP00000502558.1:n.*2396G>A
ENST00000675233.1:n.4999G>A
ENST00000675321.1:c.3172G>A	ENSP00000502751.1:p.Glu1058Lys
ENST00000675325.1:n.5129G>A
ENST00000675335.1:c.3203G>A	ENSP00000502182.1:n.3203G>A
ENST00000675400.1:n.4907G>A
ENST00000675406.1:c.3172G>A	ENSP00000501893.1:p.Glu1058Lys
ENST00000675458.1:c.3265G>A	ENSP00000501754.1:n.3265G>A
ENST00000675507.1:n.4968G>A
ENST00000675535.1:c.*799G>A	ENSP00000501667.1:n.*799G>A
ENST00000675566.1:n.5030G>A
ENST00000675602.1:n.6220G>A
ENST00000675647.1:n.4336G>A
ENST00000675711.1:c.3172G>A	ENSP00000502485.1:p.Glu1058Lys
ENST00000675727.1:c.3172G>A	ENSP00000501722.1:p.Glu1058Lys
ENST00000675748.1:n.4806G>A
ENST00000675765.1:c.*555G>A	ENSP00000502640.1:n.*555G>A
ENST00000675825.1:c.3172G>A	ENSP00000502632.1:p.Glu1058Lys
ENST00000675877.1:n.3477G>A
ENST00000675893.1:c.*4241G>A	ENSP00000502001.1:n.*4241G>A
ENST00000675943.1:n.6787G>A
ENST00000675979.1:c.*2415G>A	ENSP00000502208.1:n.*2415G>A
ENST00000676044.1:c.*832G>A	ENSP00000502378.1:n.*832G>A
ENST00000676086.1:n.4957G>A
ENST00000676121.1:n.5000G>A
ENST00000676237.1:c.3073G>A	ENSP00000501828.1:p.Glu1025Lys
ENST00000676416.1:c.2830G>A	ENSP00000501660.1:p.Glu944Lys
ENST00000676424.1:n.4968G>A
ENST00000676429.1:n.7641G>A
ENST00000374647.9:c.3172G>A	ENSP00000363779.5:p.Glu1058Lys
ENST00000467959.1:n.52G>A
ENST00000495759.5:c.312G>A
ENST00000537196.1:c.2125G>A	ENSP00000439367.1:p.Glu709Lys
NM_003640.3:c.3172G>A , LRG_251t1:c.3172G>A	NP_003631.2:p.Glu1058Lys
XM_005252285.2:c.2830G>A	XP_005252342.1:p.Glu944Lys
XM_011519136.1:c.3172G>A	XP_011517438.1:p.Glu1058Lys
XM_011519137.1:c.2830G>A	XP_011517439.1:p.Glu944Lys
NM_001318360.1:c.2830G>A	NP_001305289.1:p.Glu944Lys
NM_001330749.1:c.2125G>A	NP_001317678.1:p.Glu709Lys
NM_003640.4:c.3172G>A	NP_003631.2:p.Glu1058Lys
XM_011519136.2:c.3172G>A	XP_011517438.1:p.Glu1058Lys
XR_929859.3:n.3561G>A
NM_003640.5:c.3172G>A MANE Select	NP_003631.2:p.Glu1058Lys
NM_001318360.2:c.2830G>A	NP_001305289.1:p.Glu944Lys
NM_001330749.2:c.2125G>A	NP_001317678.1:p.Glu709Lys