Canonical Allele Identifier: CA374423130

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1371419
• ClinVar RCV Id: RCV001864537
• dbSNP Id: rs1300413546
• MyVariant Identifiers: chr9:g.111662145G>C (hg19) ; chr9:g.108899865G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899865G>C , CM000671.2:g.108899865G>C	GRCh38
NC_000009.11:g.111662145G>C , CM000671.1:g.111662145G>C	GRCh37
NC_000009.10:g.110701966G>C	NCBI36
NG_008788.1:g.39464C>G , LRG_251:g.39464C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2161C>G MANE Select	ENSP00000363779.5:p.His721Asp
ENST00000495759.6:c.*771C>G	ENSP00000433514.2:n.*771C>G
ENST00000674535.1:c.2161C>G	ENSP00000502142.1:p.His721Asp
ENST00000674704.1:n.3968C>G
ENST00000674836.1:n.2466C>G
ENST00000674890.1:c.2161C>G	ENSP00000501870.1:p.His721Asp
ENST00000674938.1:c.1819C>G	ENSP00000502427.1:p.His607Asp
ENST00000674948.1:c.1819C>G	ENSP00000501602.1:p.His607Asp
ENST00000675052.1:c.2161C>G	ENSP00000502664.1:p.His721Asp
ENST00000675078.1:c.2161C>G	ENSP00000501549.1:p.His721Asp
ENST00000675215.1:c.*1385C>G	ENSP00000502558.1:n.*1385C>G
ENST00000675233.1:n.3988C>G
ENST00000675321.1:c.2161C>G	ENSP00000502751.1:p.His721Asp
ENST00000675325.1:n.3957C>G
ENST00000675335.1:c.2192C>G	ENSP00000502182.1:n.2192C>G
ENST00000675400.1:n.3834C>G
ENST00000675406.1:c.2161C>G	ENSP00000501893.1:p.His721Asp
ENST00000675458.1:c.2254C>G	ENSP00000501754.1:n.2254C>G
ENST00000675507.1:n.3957C>G
ENST00000675535.1:c.2161C>G	ENSP00000501667.1:p.His721Asp
ENST00000675566.1:n.3957C>G
ENST00000675602.1:n.5209C>G
ENST00000675647.1:n.2466C>G
ENST00000675711.1:c.2161C>G	ENSP00000502485.1:p.His721Asp
ENST00000675727.1:c.2161C>G	ENSP00000501722.1:p.His721Asp
ENST00000675748.1:n.3795C>G
ENST00000675765.1:c.2161C>G	ENSP00000502640.1:p.His721Asp
ENST00000675825.1:c.2161C>G	ENSP00000502632.1:p.His721Asp
ENST00000675877.1:n.2466C>G
ENST00000675893.1:c.*3230C>G	ENSP00000502001.1:n.*3230C>G
ENST00000675943.1:n.5776C>G
ENST00000675979.1:c.*1404C>G	ENSP00000502208.1:n.*1404C>G
ENST00000676044.1:c.2161C>G	ENSP00000502378.1:p.His721Asp
ENST00000676086.1:n.3946C>G
ENST00000676121.1:n.3989C>G
ENST00000676237.1:c.2062C>G	ENSP00000501828.1:p.His688Asp
ENST00000676416.1:c.1819C>G	ENSP00000501660.1:p.His607Asp
ENST00000676424.1:n.3957C>G
ENST00000676429.1:n.6630C>G
ENST00000374647.9:c.2161C>G	ENSP00000363779.5:p.His721Asp
ENST00000537196.1:c.1114C>G	ENSP00000439367.1:p.His372Asp
NM_003640.3:c.2161C>G , LRG_251t1:c.2161C>G	NP_003631.2:p.His721Asp
XM_005252285.2:c.1819C>G	XP_005252342.1:p.His607Asp
XM_011519136.1:c.2161C>G	XP_011517438.1:p.His721Asp
XM_011519137.1:c.1819C>G	XP_011517439.1:p.His607Asp
XR_929859.1:n.2477C>G
NM_001318360.1:c.1819C>G	NP_001305289.1:p.His607Asp
NM_001330749.1:c.1114C>G	NP_001317678.1:p.His372Asp
NM_003640.4:c.2161C>G	NP_003631.2:p.His721Asp
XM_011519136.2:c.2161C>G	XP_011517438.1:p.His721Asp
XR_929859.3:n.2488C>G
NM_003640.5:c.2161C>G MANE Select	NP_003631.2:p.His721Asp
NM_001318360.2:c.1819C>G	NP_001305289.1:p.His607Asp
NM_001330749.2:c.1114C>G	NP_001317678.1:p.His372Asp