Canonical Allele Identifier: CA374423173

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662157C>G (hg19) ; chr9:g.108899877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899877C>G , CM000671.2:g.108899877C>G	GRCh38
NC_000009.11:g.111662157C>G , CM000671.1:g.111662157C>G	GRCh37
NC_000009.10:g.110701978C>G	NCBI36
NG_008788.1:g.39452G>C , LRG_251:g.39452G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2149G>C MANE Select	ENSP00000363779.5:p.Glu717Gln
ENST00000495759.6:c.*759G>C	ENSP00000433514.2:n.*759G>C
ENST00000674535.1:c.2149G>C	ENSP00000502142.1:p.Glu717Gln
ENST00000674704.1:n.3956G>C
ENST00000674836.1:n.2454G>C
ENST00000674890.1:c.2149G>C	ENSP00000501870.1:p.Glu717Gln
ENST00000674938.1:c.1807G>C	ENSP00000502427.1:p.Glu603Gln
ENST00000674948.1:c.1807G>C	ENSP00000501602.1:p.Glu603Gln
ENST00000675052.1:c.2149G>C	ENSP00000502664.1:p.Glu717Gln
ENST00000675078.1:c.2149G>C	ENSP00000501549.1:p.Glu717Gln
ENST00000675215.1:c.*1373G>C	ENSP00000502558.1:n.*1373G>C
ENST00000675233.1:n.3976G>C
ENST00000675321.1:c.2149G>C	ENSP00000502751.1:p.Glu717Gln
ENST00000675325.1:n.3945G>C
ENST00000675335.1:c.2180G>C	ENSP00000502182.1:n.2180G>C
ENST00000675400.1:n.3822G>C
ENST00000675406.1:c.2149G>C	ENSP00000501893.1:p.Glu717Gln
ENST00000675458.1:c.2242G>C	ENSP00000501754.1:n.2242G>C
ENST00000675507.1:n.3945G>C
ENST00000675535.1:c.2149G>C	ENSP00000501667.1:p.Glu717Gln
ENST00000675566.1:n.3945G>C
ENST00000675602.1:n.5197G>C
ENST00000675647.1:n.2454G>C
ENST00000675711.1:c.2149G>C	ENSP00000502485.1:p.Glu717Gln
ENST00000675727.1:c.2149G>C	ENSP00000501722.1:p.Glu717Gln
ENST00000675748.1:n.3783G>C
ENST00000675765.1:c.2149G>C	ENSP00000502640.1:p.Glu717Gln
ENST00000675825.1:c.2149G>C	ENSP00000502632.1:p.Glu717Gln
ENST00000675877.1:n.2454G>C
ENST00000675893.1:c.*3218G>C	ENSP00000502001.1:n.*3218G>C
ENST00000675943.1:n.5764G>C
ENST00000675979.1:c.*1392G>C	ENSP00000502208.1:n.*1392G>C
ENST00000676044.1:c.2149G>C	ENSP00000502378.1:p.Glu717Gln
ENST00000676086.1:n.3934G>C
ENST00000676121.1:n.3977G>C
ENST00000676237.1:c.2050G>C	ENSP00000501828.1:p.Glu684Gln
ENST00000676416.1:c.1807G>C	ENSP00000501660.1:p.Glu603Gln
ENST00000676424.1:n.3945G>C
ENST00000676429.1:n.6618G>C
ENST00000374647.9:c.2149G>C	ENSP00000363779.5:p.Glu717Gln
ENST00000537196.1:c.1102G>C	ENSP00000439367.1:p.Glu368Gln
NM_003640.3:c.2149G>C , LRG_251t1:c.2149G>C	NP_003631.2:p.Glu717Gln
XM_005252285.2:c.1807G>C	XP_005252342.1:p.Glu603Gln
XM_011519136.1:c.2149G>C	XP_011517438.1:p.Glu717Gln
XM_011519137.1:c.1807G>C	XP_011517439.1:p.Glu603Gln
XR_929859.1:n.2465G>C
NM_001318360.1:c.1807G>C	NP_001305289.1:p.Glu603Gln
NM_001330749.1:c.1102G>C	NP_001317678.1:p.Glu368Gln
NM_003640.4:c.2149G>C	NP_003631.2:p.Glu717Gln
XM_011519136.2:c.2149G>C	XP_011517438.1:p.Glu717Gln
XR_929859.3:n.2476G>C
NM_003640.5:c.2149G>C MANE Select	NP_003631.2:p.Glu717Gln
NM_001318360.2:c.1807G>C	NP_001305289.1:p.Glu603Gln
NM_001330749.2:c.1102G>C	NP_001317678.1:p.Glu368Gln