Canonical Allele Identifier: CA374418939

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656288T>C (hg19) ; chr9:g.108894008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894008T>C , CM000671.2:g.108894008T>C	GRCh38
NC_000009.11:g.111656288T>C , CM000671.1:g.111656288T>C	GRCh37
NC_000009.10:g.110696109T>C	NCBI36
NG_008788.1:g.45321A>G , LRG_251:g.45321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2795A>G MANE Select	ENSP00000363779.5:p.Gln932Arg
ENST00000495759.6:c.*1405A>G	ENSP00000433514.2:n.*1405A>G
ENST00000674535.1:c.2795A>G	ENSP00000502142.1:p.Gln932Arg
ENST00000674704.1:n.5880A>G
ENST00000674836.1:n.3408A>G
ENST00000674890.1:c.*30A>G	ENSP00000501870.1:n.*30A>G
ENST00000674938.1:c.2453A>G	ENSP00000502427.1:p.Gln818Arg
ENST00000674948.1:c.2453A>G	ENSP00000501602.1:p.Gln818Arg
ENST00000675052.1:c.2795A>G	ENSP00000502664.1:p.Gln932Arg
ENST00000675078.1:c.2795A>G	ENSP00000501549.1:p.Gln932Arg
ENST00000675215.1:c.*2019A>G	ENSP00000502558.1:n.*2019A>G
ENST00000675233.1:n.4622A>G
ENST00000675321.1:c.2795A>G	ENSP00000502751.1:p.Gln932Arg
ENST00000675325.1:n.4752A>G
ENST00000675335.1:c.2826A>G	ENSP00000502182.1:n.2826A>G
ENST00000675400.1:n.4530A>G
ENST00000675406.1:c.2795A>G	ENSP00000501893.1:p.Gln932Arg
ENST00000675458.1:c.2888A>G	ENSP00000501754.1:n.2888A>G
ENST00000675507.1:n.4591A>G
ENST00000675535.1:c.*422A>G	ENSP00000501667.1:n.*422A>G
ENST00000675566.1:n.4653A>G
ENST00000675602.1:n.5843A>G
ENST00000675647.1:n.3100A>G
ENST00000675711.1:c.2795A>G	ENSP00000502485.1:p.Gln932Arg
ENST00000675727.1:c.2795A>G	ENSP00000501722.1:p.Gln932Arg
ENST00000675748.1:n.4429A>G
ENST00000675765.1:c.*178A>G	ENSP00000502640.1:n.*178A>G
ENST00000675825.1:c.2795A>G	ENSP00000502632.1:p.Gln932Arg
ENST00000675877.1:n.3100A>G
ENST00000675893.1:c.*3864A>G	ENSP00000502001.1:n.*3864A>G
ENST00000675943.1:n.6410A>G
ENST00000675979.1:c.*2038A>G	ENSP00000502208.1:n.*2038A>G
ENST00000676044.1:c.*455A>G	ENSP00000502378.1:n.*455A>G
ENST00000676086.1:n.4580A>G
ENST00000676121.1:n.4623A>G
ENST00000676237.1:c.2696A>G	ENSP00000501828.1:p.Gln899Arg
ENST00000676416.1:c.2453A>G	ENSP00000501660.1:p.Gln818Arg
ENST00000676424.1:n.4591A>G
ENST00000676429.1:n.7264A>G
ENST00000374647.9:c.2795A>G	ENSP00000363779.5:p.Gln932Arg
ENST00000537196.1:c.1748A>G	ENSP00000439367.1:p.Gln583Arg
NM_003640.3:c.2795A>G , LRG_251t1:c.2795A>G	NP_003631.2:p.Gln932Arg
XM_005252285.2:c.2453A>G	XP_005252342.1:p.Gln818Arg
XM_011519136.1:c.2795A>G	XP_011517438.1:p.Gln932Arg
XM_011519137.1:c.2453A>G	XP_011517439.1:p.Gln818Arg
XR_929859.1:n.3173A>G
NM_001318360.1:c.2453A>G	NP_001305289.1:p.Gln818Arg
NM_001330749.1:c.1748A>G	NP_001317678.1:p.Gln583Arg
NM_003640.4:c.2795A>G	NP_003631.2:p.Gln932Arg
XM_011519136.2:c.2795A>G	XP_011517438.1:p.Gln932Arg
XR_929859.3:n.3184A>G
NM_003640.5:c.2795A>G MANE Select	NP_003631.2:p.Gln932Arg
NM_001318360.2:c.2453A>G	NP_001305289.1:p.Gln818Arg
NM_001330749.2:c.1748A>G	NP_001317678.1:p.Gln583Arg