Canonical Allele Identifier: CA466668636

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1577523
• ClinVar RCV Id: RCV002088032
• dbSNP Id: rs2132028153
• MyVariant Identifiers: chr9:g.111679941G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917661G>T , CM000671.2:g.108917661G>T	GRCh38
NC_000009.11:g.111679941G>T , CM000671.1:g.111679941G>T	GRCh37
NC_000009.10:g.110719762G>T	NCBI36
NG_008788.1:g.21668C>A , LRG_251:g.21668C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.750C>A MANE Select	ENSP00000363779.5:p.Gly250=
ENST00000495759.6:c.552+5181C>A	ENSP00000433514.2:n.552+5181C>A
ENST00000674535.1:c.750C>A	ENSP00000502142.1:p.Gly250=
ENST00000674704.1:n.2557C>A
ENST00000674836.1:n.1055C>A
ENST00000674890.1:c.750C>A	ENSP00000501870.1:p.Gly250=
ENST00000674938.1:c.408C>A	ENSP00000502427.1:p.Gly136=
ENST00000674948.1:c.408C>A	ENSP00000501602.1:p.Gly136=
ENST00000675052.1:c.750C>A	ENSP00000502664.1:p.Gly250=
ENST00000675078.1:c.750C>A	ENSP00000501549.1:p.Gly250=
ENST00000675215.1:c.562C>A	ENSP00000502558.1:p.Gln188Lys
ENST00000675233.1:n.2546C>A
ENST00000675321.1:c.750C>A	ENSP00000502751.1:p.Gly250=
ENST00000675325.1:n.2546C>A
ENST00000675335.1:c.750C>A	ENSP00000502182.1:p.Gly250=
ENST00000675400.1:n.2423C>A
ENST00000675406.1:c.750C>A	ENSP00000501893.1:p.Gly250=
ENST00000675458.1:c.843C>A	ENSP00000501754.1:n.843C>A
ENST00000675507.1:n.2546C>A
ENST00000675535.1:c.750C>A	ENSP00000501667.1:p.Gly250=
ENST00000675566.1:n.2546C>A
ENST00000675602.1:n.2549C>A
ENST00000675647.1:n.1055C>A
ENST00000675711.1:c.750C>A	ENSP00000502485.1:p.Gly250=
ENST00000675727.1:c.750C>A	ENSP00000501722.1:p.Gly250=
ENST00000675748.1:n.2384C>A
ENST00000675765.1:c.750C>A	ENSP00000502640.1:p.Gly250=
ENST00000675825.1:c.750C>A	ENSP00000502632.1:p.Gly250=
ENST00000675877.1:n.1055C>A
ENST00000675893.1:c.*1819C>A	ENSP00000502001.1:n.*1819C>A
ENST00000675943.1:n.2546C>A
ENST00000675979.1:c.659C>A	ENSP00000502208.1:p.Ala220Glu
ENST00000676044.1:c.750C>A	ENSP00000502378.1:p.Gly250=
ENST00000676086.1:n.2546C>A
ENST00000676121.1:n.2578C>A
ENST00000676237.1:c.651C>A	ENSP00000501828.1:p.Gly217=
ENST00000676416.1:c.408C>A	ENSP00000501660.1:p.Gly136=
ENST00000676424.1:n.2546C>A
ENST00000676429.1:n.5219C>A
ENST00000374647.9:c.750C>A	ENSP00000363779.5:p.Gly250=
ENST00000537196.1:c.-298C>A	ENSP00000439367.1:n.-298C>A
NM_003640.3:c.750C>A , LRG_251t1:c.750C>A	NP_003631.2:p.Gly250=
XM_005252285.2:c.408C>A	XP_005252342.1:p.Gly136=
XM_011519136.1:c.750C>A	XP_011517438.1:p.Gly250=
XM_011519137.1:c.408C>A	XP_011517439.1:p.Gly136=
XR_929859.1:n.1066C>A
NM_001318360.1:c.408C>A	NP_001305289.1:p.Gly136=
NM_001330749.1:c.-298C>A	NP_001317678.1:n.-298C>A
NM_003640.4:c.750C>A	NP_003631.2:p.Gly250=
XM_011519136.2:c.750C>A	XP_011517438.1:p.Gly250=
XR_929859.3:n.1077C>A
NM_003640.5:c.750C>A MANE Select	NP_003631.2:p.Gly250=
NM_001318360.2:c.408C>A	NP_001305289.1:p.Gly136=
NM_001330749.2:c.-298C>A	NP_001317678.1:n.-298C>A