Canonical Allele Identifier: CA374415040

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1799759
• ClinVar RCV Id: RCV004066514
• MyVariant Identifiers: chr9:g.111651671T>G (hg19) ; chr9:g.108889391T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889391T>G , CM000671.2:g.108889391T>G	GRCh38
NC_000009.11:g.111651671T>G , CM000671.1:g.111651671T>G	GRCh37
NC_000009.10:g.110691492T>G	NCBI36
NG_008788.1:g.49938A>C , LRG_251:g.49938A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3163A>C MANE Select	ENSP00000363779.5:p.Lys1055Gln
ENST00000495759.6:c.*1773A>C	ENSP00000433514.2:n.*1773A>C
ENST00000674535.1:c.3163A>C	ENSP00000502142.1:p.Lys1055Gln
ENST00000674704.1:n.6248A>C
ENST00000674836.1:n.3776A>C
ENST00000674890.1:c.*398A>C	ENSP00000501870.1:n.*398A>C
ENST00000674938.1:c.2821A>C	ENSP00000502427.1:p.Lys941Gln
ENST00000674948.1:c.2821A>C	ENSP00000501602.1:p.Lys941Gln
ENST00000675052.1:c.3163A>C	ENSP00000502664.1:p.Lys1055Gln
ENST00000675078.1:c.3163A>C	ENSP00000501549.1:p.Lys1055Gln
ENST00000675215.1:c.*2387A>C	ENSP00000502558.1:n.*2387A>C
ENST00000675233.1:n.4990A>C
ENST00000675321.1:c.3163A>C	ENSP00000502751.1:p.Lys1055Gln
ENST00000675325.1:n.5120A>C
ENST00000675335.1:c.3194A>C	ENSP00000502182.1:n.3194A>C
ENST00000675400.1:n.4898A>C
ENST00000675406.1:c.3163A>C	ENSP00000501893.1:p.Lys1055Gln
ENST00000675458.1:c.3256A>C	ENSP00000501754.1:n.3256A>C
ENST00000675507.1:n.4959A>C
ENST00000675535.1:c.*790A>C	ENSP00000501667.1:n.*790A>C
ENST00000675566.1:n.5021A>C
ENST00000675602.1:n.6211A>C
ENST00000675647.1:n.4327A>C
ENST00000675711.1:c.3163A>C	ENSP00000502485.1:p.Lys1055Gln
ENST00000675727.1:c.3163A>C	ENSP00000501722.1:p.Lys1055Gln
ENST00000675748.1:n.4797A>C
ENST00000675765.1:c.*546A>C	ENSP00000502640.1:n.*546A>C
ENST00000675825.1:c.3163A>C	ENSP00000502632.1:p.Lys1055Gln
ENST00000675877.1:n.3468A>C
ENST00000675893.1:c.*4232A>C	ENSP00000502001.1:n.*4232A>C
ENST00000675943.1:n.6778A>C
ENST00000675979.1:c.*2406A>C	ENSP00000502208.1:n.*2406A>C
ENST00000676044.1:c.*823A>C	ENSP00000502378.1:n.*823A>C
ENST00000676086.1:n.4948A>C
ENST00000676121.1:n.4991A>C
ENST00000676237.1:c.3064A>C	ENSP00000501828.1:p.Lys1022Gln
ENST00000676416.1:c.2821A>C	ENSP00000501660.1:p.Lys941Gln
ENST00000676424.1:n.4959A>C
ENST00000676429.1:n.7632A>C
ENST00000374647.9:c.3163A>C	ENSP00000363779.5:p.Lys1055Gln
ENST00000467959.1:n.43A>C
ENST00000495759.5:c.303A>C
ENST00000537196.1:c.2116A>C	ENSP00000439367.1:p.Lys706Gln
NM_003640.3:c.3163A>C , LRG_251t1:c.3163A>C	NP_003631.2:p.Lys1055Gln
XM_005252285.2:c.2821A>C	XP_005252342.1:p.Lys941Gln
XM_011519136.1:c.3163A>C	XP_011517438.1:p.Lys1055Gln
XM_011519137.1:c.2821A>C	XP_011517439.1:p.Lys941Gln
NM_001318360.1:c.2821A>C	NP_001305289.1:p.Lys941Gln
NM_001330749.1:c.2116A>C	NP_001317678.1:p.Lys706Gln
NM_003640.4:c.3163A>C	NP_003631.2:p.Lys1055Gln
XM_011519136.2:c.3163A>C	XP_011517438.1:p.Lys1055Gln
XR_929859.3:n.3552A>C
NM_003640.5:c.3163A>C MANE Select	NP_003631.2:p.Lys1055Gln
NM_001318360.2:c.2821A>C	NP_001305289.1:p.Lys941Gln
NM_001330749.2:c.2116A>C	NP_001317678.1:p.Lys706Gln