Canonical Allele Identifier: CA5174389

Gene: ELP1

Linked Data

• ClinVar Variation Id: 526197
• ClinVar RCV Id: RCV002461938
• dbSNP Id: rs140024352
• ExAC: 9:111651621 C / G
• gnomAD v2: 9-111651621-C-G
• gnomAD v3: 9-108889341-C-G
• gnomAD v4: 9-108889341-C-G
• MyVariant Identifiers: chr9:g.111651621C>G (hg19) ; chr9:g.108889341C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889341C>G , CM000671.2:g.108889341C>G	GRCh38
NC_000009.11:g.111651621C>G , CM000671.1:g.111651621C>G	GRCh37
NC_000009.10:g.110691442C>G	NCBI36
NG_008788.1:g.49988G>C , LRG_251:g.49988G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3213G>C MANE Select	ENSP00000363779.5:p.Glu1071Asp
ENST00000495759.6:c.*1823G>C	ENSP00000433514.2:n.*1823G>C
ENST00000674535.1:c.3213G>C	ENSP00000502142.1:p.Glu1071Asp
ENST00000674704.1:n.6298G>C
ENST00000674836.1:n.3826G>C
ENST00000674890.1:c.*448G>C	ENSP00000501870.1:n.*448G>C
ENST00000674938.1:c.2871G>C	ENSP00000502427.1:p.Glu957Asp
ENST00000674948.1:c.2871G>C	ENSP00000501602.1:p.Glu957Asp
ENST00000675052.1:c.3213G>C	ENSP00000502664.1:p.Glu1071Asp
ENST00000675078.1:c.3213G>C	ENSP00000501549.1:p.Glu1071Asp
ENST00000675215.1:c.*2437G>C	ENSP00000502558.1:n.*2437G>C
ENST00000675233.1:n.5040G>C
ENST00000675321.1:c.3213G>C	ENSP00000502751.1:p.Glu1071Asp
ENST00000675325.1:n.5170G>C
ENST00000675335.1:c.3244G>C	ENSP00000502182.1:n.3244G>C
ENST00000675400.1:n.4948G>C
ENST00000675406.1:c.3213G>C	ENSP00000501893.1:p.Glu1071Asp
ENST00000675458.1:c.3306G>C	ENSP00000501754.1:n.3306G>C
ENST00000675507.1:n.5009G>C
ENST00000675535.1:c.*840G>C	ENSP00000501667.1:n.*840G>C
ENST00000675566.1:n.5071G>C
ENST00000675602.1:n.6261G>C
ENST00000675647.1:n.4377G>C
ENST00000675711.1:c.3213G>C	ENSP00000502485.1:p.Glu1071Asp
ENST00000675727.1:c.3213G>C	ENSP00000501722.1:p.Glu1071Asp
ENST00000675748.1:n.4847G>C
ENST00000675765.1:c.*596G>C	ENSP00000502640.1:n.*596G>C
ENST00000675825.1:c.3213G>C	ENSP00000502632.1:p.Glu1071Asp
ENST00000675877.1:n.3518G>C
ENST00000675893.1:c.*4282G>C	ENSP00000502001.1:n.*4282G>C
ENST00000675943.1:n.6828G>C
ENST00000675979.1:c.*2456G>C	ENSP00000502208.1:n.*2456G>C
ENST00000676044.1:c.*873G>C	ENSP00000502378.1:n.*873G>C
ENST00000676086.1:n.4998G>C
ENST00000676121.1:n.5041G>C
ENST00000676237.1:c.3114G>C	ENSP00000501828.1:p.Glu1038Asp
ENST00000676416.1:c.2871G>C	ENSP00000501660.1:p.Glu957Asp
ENST00000676424.1:n.5009G>C
ENST00000676429.1:n.7682G>C
ENST00000374647.9:c.3213G>C	ENSP00000363779.5:p.Glu1071Asp
ENST00000467959.1:n.93G>C
ENST00000495759.5:c.353G>C
ENST00000537196.1:c.2166G>C	ENSP00000439367.1:p.Glu722Asp
NM_003640.3:c.3213G>C , LRG_251t1:c.3213G>C	NP_003631.2:p.Glu1071Asp
XM_005252285.2:c.2871G>C	XP_005252342.1:p.Glu957Asp
XM_011519136.1:c.3213G>C	XP_011517438.1:p.Glu1071Asp
XM_011519137.1:c.2871G>C	XP_011517439.1:p.Glu957Asp
NM_001318360.1:c.2871G>C	NP_001305289.1:p.Glu957Asp
NM_001330749.1:c.2166G>C	NP_001317678.1:p.Glu722Asp
NM_003640.4:c.3213G>C	NP_003631.2:p.Glu1071Asp
XM_011519136.2:c.3213G>C	XP_011517438.1:p.Glu1071Asp
XR_929859.3:n.3602G>C
NM_003640.5:c.3213G>C MANE Select	NP_003631.2:p.Glu1071Asp
NM_001318360.2:c.2871G>C	NP_001305289.1:p.Glu957Asp
NM_001330749.2:c.2166G>C	NP_001317678.1:p.Glu722Asp