Canonical Allele Identifier: CA374414843

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111651623C>G (hg19) ; chr9:g.108889343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889343C>G , CM000671.2:g.108889343C>G	GRCh38
NC_000009.11:g.111651623C>G , CM000671.1:g.111651623C>G	GRCh37
NC_000009.10:g.110691444C>G	NCBI36
NG_008788.1:g.49986G>C , LRG_251:g.49986G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3211G>C MANE Select	ENSP00000363779.5:p.Glu1071Gln
ENST00000495759.6:c.*1821G>C	ENSP00000433514.2:n.*1821G>C
ENST00000674535.1:c.3211G>C	ENSP00000502142.1:p.Glu1071Gln
ENST00000674704.1:n.6296G>C
ENST00000674836.1:n.3824G>C
ENST00000674890.1:c.*446G>C	ENSP00000501870.1:n.*446G>C
ENST00000674938.1:c.2869G>C	ENSP00000502427.1:p.Glu957Gln
ENST00000674948.1:c.2869G>C	ENSP00000501602.1:p.Glu957Gln
ENST00000675052.1:c.3211G>C	ENSP00000502664.1:p.Glu1071Gln
ENST00000675078.1:c.3211G>C	ENSP00000501549.1:p.Glu1071Gln
ENST00000675215.1:c.*2435G>C	ENSP00000502558.1:n.*2435G>C
ENST00000675233.1:n.5038G>C
ENST00000675321.1:c.3211G>C	ENSP00000502751.1:p.Glu1071Gln
ENST00000675325.1:n.5168G>C
ENST00000675335.1:c.3242G>C	ENSP00000502182.1:n.3242G>C
ENST00000675400.1:n.4946G>C
ENST00000675406.1:c.3211G>C	ENSP00000501893.1:p.Glu1071Gln
ENST00000675458.1:c.3304G>C	ENSP00000501754.1:n.3304G>C
ENST00000675507.1:n.5007G>C
ENST00000675535.1:c.*838G>C	ENSP00000501667.1:n.*838G>C
ENST00000675566.1:n.5069G>C
ENST00000675602.1:n.6259G>C
ENST00000675647.1:n.4375G>C
ENST00000675711.1:c.3211G>C	ENSP00000502485.1:p.Glu1071Gln
ENST00000675727.1:c.3211G>C	ENSP00000501722.1:p.Glu1071Gln
ENST00000675748.1:n.4845G>C
ENST00000675765.1:c.*594G>C	ENSP00000502640.1:n.*594G>C
ENST00000675825.1:c.3211G>C	ENSP00000502632.1:p.Glu1071Gln
ENST00000675877.1:n.3516G>C
ENST00000675893.1:c.*4280G>C	ENSP00000502001.1:n.*4280G>C
ENST00000675943.1:n.6826G>C
ENST00000675979.1:c.*2454G>C	ENSP00000502208.1:n.*2454G>C
ENST00000676044.1:c.*871G>C	ENSP00000502378.1:n.*871G>C
ENST00000676086.1:n.4996G>C
ENST00000676121.1:n.5039G>C
ENST00000676237.1:c.3112G>C	ENSP00000501828.1:p.Glu1038Gln
ENST00000676416.1:c.2869G>C	ENSP00000501660.1:p.Glu957Gln
ENST00000676424.1:n.5007G>C
ENST00000676429.1:n.7680G>C
ENST00000374647.9:c.3211G>C	ENSP00000363779.5:p.Glu1071Gln
ENST00000467959.1:n.91G>C
ENST00000495759.5:c.351G>C
ENST00000537196.1:c.2164G>C	ENSP00000439367.1:p.Glu722Gln
NM_003640.3:c.3211G>C , LRG_251t1:c.3211G>C	NP_003631.2:p.Glu1071Gln
XM_005252285.2:c.2869G>C	XP_005252342.1:p.Glu957Gln
XM_011519136.1:c.3211G>C	XP_011517438.1:p.Glu1071Gln
XM_011519137.1:c.2869G>C	XP_011517439.1:p.Glu957Gln
NM_001318360.1:c.2869G>C	NP_001305289.1:p.Glu957Gln
NM_001330749.1:c.2164G>C	NP_001317678.1:p.Glu722Gln
NM_003640.4:c.3211G>C	NP_003631.2:p.Glu1071Gln
XM_011519136.2:c.3211G>C	XP_011517438.1:p.Glu1071Gln
XR_929859.3:n.3600G>C
NM_003640.5:c.3211G>C MANE Select	NP_003631.2:p.Glu1071Gln
NM_001318360.2:c.2869G>C	NP_001305289.1:p.Glu957Gln
NM_001330749.2:c.2164G>C	NP_001317678.1:p.Glu722Gln