Canonical Allele Identifier: CA374414980

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111651658T>C (hg19) ; chr9:g.108889378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889378T>C , CM000671.2:g.108889378T>C	GRCh38
NC_000009.11:g.111651658T>C , CM000671.1:g.111651658T>C	GRCh37
NC_000009.10:g.110691479T>C	NCBI36
NG_008788.1:g.49951A>G , LRG_251:g.49951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3176A>G MANE Select	ENSP00000363779.5:p.Gln1059Arg
ENST00000495759.6:c.*1786A>G	ENSP00000433514.2:n.*1786A>G
ENST00000674535.1:c.3176A>G	ENSP00000502142.1:p.Gln1059Arg
ENST00000674704.1:n.6261A>G
ENST00000674836.1:n.3789A>G
ENST00000674890.1:c.*411A>G	ENSP00000501870.1:n.*411A>G
ENST00000674938.1:c.2834A>G	ENSP00000502427.1:p.Gln945Arg
ENST00000674948.1:c.2834A>G	ENSP00000501602.1:p.Gln945Arg
ENST00000675052.1:c.3176A>G	ENSP00000502664.1:p.Gln1059Arg
ENST00000675078.1:c.3176A>G	ENSP00000501549.1:p.Gln1059Arg
ENST00000675215.1:c.*2400A>G	ENSP00000502558.1:n.*2400A>G
ENST00000675233.1:n.5003A>G
ENST00000675321.1:c.3176A>G	ENSP00000502751.1:p.Gln1059Arg
ENST00000675325.1:n.5133A>G
ENST00000675335.1:c.3207A>G	ENSP00000502182.1:n.3207A>G
ENST00000675400.1:n.4911A>G
ENST00000675406.1:c.3176A>G	ENSP00000501893.1:p.Gln1059Arg
ENST00000675458.1:c.3269A>G	ENSP00000501754.1:n.3269A>G
ENST00000675507.1:n.4972A>G
ENST00000675535.1:c.*803A>G	ENSP00000501667.1:n.*803A>G
ENST00000675566.1:n.5034A>G
ENST00000675602.1:n.6224A>G
ENST00000675647.1:n.4340A>G
ENST00000675711.1:c.3176A>G	ENSP00000502485.1:p.Gln1059Arg
ENST00000675727.1:c.3176A>G	ENSP00000501722.1:p.Gln1059Arg
ENST00000675748.1:n.4810A>G
ENST00000675765.1:c.*559A>G	ENSP00000502640.1:n.*559A>G
ENST00000675825.1:c.3176A>G	ENSP00000502632.1:p.Gln1059Arg
ENST00000675877.1:n.3481A>G
ENST00000675893.1:c.*4245A>G	ENSP00000502001.1:n.*4245A>G
ENST00000675943.1:n.6791A>G
ENST00000675979.1:c.*2419A>G	ENSP00000502208.1:n.*2419A>G
ENST00000676044.1:c.*836A>G	ENSP00000502378.1:n.*836A>G
ENST00000676086.1:n.4961A>G
ENST00000676121.1:n.5004A>G
ENST00000676237.1:c.3077A>G	ENSP00000501828.1:p.Gln1026Arg
ENST00000676416.1:c.2834A>G	ENSP00000501660.1:p.Gln945Arg
ENST00000676424.1:n.4972A>G
ENST00000676429.1:n.7645A>G
ENST00000374647.9:c.3176A>G	ENSP00000363779.5:p.Gln1059Arg
ENST00000467959.1:n.56A>G
ENST00000495759.5:c.316A>G
ENST00000537196.1:c.2129A>G	ENSP00000439367.1:p.Gln710Arg
NM_003640.3:c.3176A>G , LRG_251t1:c.3176A>G	NP_003631.2:p.Gln1059Arg
XM_005252285.2:c.2834A>G	XP_005252342.1:p.Gln945Arg
XM_011519136.1:c.3176A>G	XP_011517438.1:p.Gln1059Arg
XM_011519137.1:c.2834A>G	XP_011517439.1:p.Gln945Arg
NM_001318360.1:c.2834A>G	NP_001305289.1:p.Gln945Arg
NM_001330749.1:c.2129A>G	NP_001317678.1:p.Gln710Arg
NM_003640.4:c.3176A>G	NP_003631.2:p.Gln1059Arg
XM_011519136.2:c.3176A>G	XP_011517438.1:p.Gln1059Arg
XR_929859.3:n.3565A>G
NM_003640.5:c.3176A>G MANE Select	NP_003631.2:p.Gln1059Arg
NM_001318360.2:c.2834A>G	NP_001305289.1:p.Gln945Arg
NM_001330749.2:c.2129A>G	NP_001317678.1:p.Gln710Arg