Canonical Allele Identifier: CA253767

Gene: ELP1

Linked Data

• ClinVar Variation Id: 6086
• ClinVar RCV Id: RCV000006459 ; RCV000789660 ; RCV001380395 ; RCV002482833
• dbSNP Id: rs137853022
• gnomAD v4: 9-108900303-C-G
• MyVariant Identifiers: chr9:g.111662583C>G (hg19) ; chr9:g.108900303C>G (hg38)
• PubMed: PMID:11179008 ; PMID:11179021 ; PMID:12116234 ; PMID:20301359

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108900303C>G , CM000671.2:g.108900303C>G	GRCh38
NC_000009.11:g.111662583C>G , CM000671.1:g.111662583C>G	GRCh37
NC_000009.10:g.110702404C>G	NCBI36
NG_008788.1:g.39026G>C , LRG_251:g.39026G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2087G>C MANE Select	ENSP00000363779.5:p.Arg696Pro
ENST00000495759.6:c.*697G>C	ENSP00000433514.2:n.*697G>C
ENST00000674535.1:c.2087G>C	ENSP00000502142.1:p.Arg696Pro
ENST00000674704.1:n.3894G>C
ENST00000674836.1:n.2392G>C
ENST00000674890.1:c.2087G>C	ENSP00000501870.1:p.Arg696Pro
ENST00000674938.1:c.1745G>C	ENSP00000502427.1:p.Arg582Pro
ENST00000674948.1:c.1745G>C	ENSP00000501602.1:p.Arg582Pro
ENST00000675052.1:c.2087G>C	ENSP00000502664.1:p.Arg696Pro
ENST00000675078.1:c.2087G>C	ENSP00000501549.1:p.Arg696Pro
ENST00000675215.1:c.*1311G>C	ENSP00000502558.1:n.*1311G>C
ENST00000675233.1:n.3914G>C
ENST00000675321.1:c.2087G>C	ENSP00000502751.1:p.Arg696Pro
ENST00000675325.1:n.3883G>C
ENST00000675335.1:c.2118G>C	ENSP00000502182.1:n.2118G>C
ENST00000675400.1:n.3760G>C
ENST00000675406.1:c.2087G>C	ENSP00000501893.1:p.Arg696Pro
ENST00000675458.1:c.2180G>C	ENSP00000501754.1:n.2180G>C
ENST00000675507.1:n.3883G>C
ENST00000675535.1:c.2087G>C	ENSP00000501667.1:p.Arg696Pro
ENST00000675566.1:n.3883G>C
ENST00000675602.1:n.5135G>C
ENST00000675647.1:n.2392G>C
ENST00000675711.1:c.2087G>C	ENSP00000502485.1:p.Arg696Pro
ENST00000675727.1:c.2087G>C	ENSP00000501722.1:p.Arg696Pro
ENST00000675748.1:n.3721G>C
ENST00000675765.1:c.2087G>C	ENSP00000502640.1:p.Arg696Pro
ENST00000675825.1:c.2087G>C	ENSP00000502632.1:p.Arg696Pro
ENST00000675877.1:n.2392G>C
ENST00000675893.1:c.*3156G>C	ENSP00000502001.1:n.*3156G>C
ENST00000675943.1:n.5702G>C
ENST00000675979.1:c.*1330G>C	ENSP00000502208.1:n.*1330G>C
ENST00000676044.1:c.2087G>C	ENSP00000502378.1:p.Arg696Pro
ENST00000676086.1:n.3872G>C
ENST00000676121.1:n.3915G>C
ENST00000676237.1:c.1988G>C	ENSP00000501828.1:p.Arg663Pro
ENST00000676416.1:c.1745G>C	ENSP00000501660.1:p.Arg582Pro
ENST00000676424.1:n.3883G>C
ENST00000676429.1:n.6556G>C
ENST00000374647.9:c.2087G>C	ENSP00000363779.5:p.Arg696Pro
ENST00000537196.1:c.1040G>C	ENSP00000439367.1:p.Arg347Pro
NM_003640.3:c.2087G>C , LRG_251t1:c.2087G>C	NP_003631.2:p.Arg696Pro
XM_005252285.2:c.1745G>C	XP_005252342.1:p.Arg582Pro
XM_011519136.1:c.2087G>C	XP_011517438.1:p.Arg696Pro
XM_011519137.1:c.1745G>C	XP_011517439.1:p.Arg582Pro
XR_929859.1:n.2403G>C
NM_001318360.1:c.1745G>C	NP_001305289.1:p.Arg582Pro
NM_001330749.1:c.1040G>C	NP_001317678.1:p.Arg347Pro
NM_003640.4:c.2087G>C	NP_003631.2:p.Arg696Pro
XM_011519136.2:c.2087G>C	XP_011517438.1:p.Arg696Pro
XR_929859.3:n.2414G>C
NM_003640.5:c.2087G>C MANE Select	NP_003631.2:p.Arg696Pro
NM_001318360.2:c.1745G>C	NP_001305289.1:p.Arg582Pro
NM_001330749.2:c.1040G>C	NP_001317678.1:p.Arg347Pro