Canonical Allele Identifier: CA466674230

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1128400
• ClinVar RCV Id: RCV001461142
• dbSNP Id: rs1828700001
• gnomAD v3: 9-108899833-C-T
• gnomAD v4: 9-108899833-C-T
• MyVariant Identifiers: chr9:g.111662113C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899833C>T , CM000671.2:g.108899833C>T	GRCh38
NC_000009.11:g.111662113C>T , CM000671.1:g.111662113C>T	GRCh37
NC_000009.10:g.110701934C>T	NCBI36
NG_008788.1:g.39496G>A , LRG_251:g.39496G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2193G>A MANE Select	ENSP00000363779.5:p.Lys731=
ENST00000495759.6:c.*803G>A	ENSP00000433514.2:n.*803G>A
ENST00000674535.1:c.2193G>A	ENSP00000502142.1:p.Lys731=
ENST00000674704.1:n.4000G>A
ENST00000674836.1:n.2498G>A
ENST00000674890.1:c.2193G>A	ENSP00000501870.1:p.Lys731=
ENST00000674938.1:c.1851G>A	ENSP00000502427.1:p.Lys617=
ENST00000674948.1:c.1851G>A	ENSP00000501602.1:p.Lys617=
ENST00000675052.1:c.2193G>A	ENSP00000502664.1:p.Lys731=
ENST00000675078.1:c.2193G>A	ENSP00000501549.1:p.Lys731=
ENST00000675215.1:c.*1417G>A	ENSP00000502558.1:n.*1417G>A
ENST00000675233.1:n.4020G>A
ENST00000675321.1:c.2193G>A	ENSP00000502751.1:p.Lys731=
ENST00000675325.1:n.3989G>A
ENST00000675335.1:c.2224G>A	ENSP00000502182.1:n.2224G>A
ENST00000675400.1:n.3866G>A
ENST00000675406.1:c.2193G>A	ENSP00000501893.1:p.Lys731=
ENST00000675458.1:c.2286G>A	ENSP00000501754.1:n.2286G>A
ENST00000675507.1:n.3989G>A
ENST00000675535.1:c.2193G>A	ENSP00000501667.1:p.Lys731=
ENST00000675566.1:n.3989G>A
ENST00000675602.1:n.5241G>A
ENST00000675647.1:n.2498G>A
ENST00000675711.1:c.2193G>A	ENSP00000502485.1:p.Lys731=
ENST00000675727.1:c.2193G>A	ENSP00000501722.1:p.Lys731=
ENST00000675748.1:n.3827G>A
ENST00000675765.1:c.2193G>A	ENSP00000502640.1:p.Lys731=
ENST00000675825.1:c.2193G>A	ENSP00000502632.1:p.Lys731=
ENST00000675877.1:n.2498G>A
ENST00000675893.1:c.*3262G>A	ENSP00000502001.1:n.*3262G>A
ENST00000675943.1:n.5808G>A
ENST00000675979.1:c.*1436G>A	ENSP00000502208.1:n.*1436G>A
ENST00000676044.1:c.2193G>A	ENSP00000502378.1:p.Lys731=
ENST00000676086.1:n.3978G>A
ENST00000676121.1:n.4021G>A
ENST00000676237.1:c.2094G>A	ENSP00000501828.1:p.Lys698=
ENST00000676416.1:c.1851G>A	ENSP00000501660.1:p.Lys617=
ENST00000676424.1:n.3989G>A
ENST00000676429.1:n.6662G>A
ENST00000374647.9:c.2193G>A	ENSP00000363779.5:p.Lys731=
ENST00000537196.1:c.1146G>A	ENSP00000439367.1:p.Lys382=
NM_003640.3:c.2193G>A , LRG_251t1:c.2193G>A	NP_003631.2:p.Lys731=
XM_005252285.2:c.1851G>A	XP_005252342.1:p.Lys617=
XM_011519136.1:c.2193G>A	XP_011517438.1:p.Lys731=
XM_011519137.1:c.1851G>A	XP_011517439.1:p.Lys617=
XR_929859.1:n.2509G>A
NM_001318360.1:c.1851G>A	NP_001305289.1:p.Lys617=
NM_001330749.1:c.1146G>A	NP_001317678.1:p.Lys382=
NM_003640.4:c.2193G>A	NP_003631.2:p.Lys731=
XM_011519136.2:c.2193G>A	XP_011517438.1:p.Lys731=
XR_929859.3:n.2520G>A
NM_003640.5:c.2193G>A MANE Select	NP_003631.2:p.Lys731=
NM_001318360.2:c.1851G>A	NP_001305289.1:p.Lys617=
NM_001330749.2:c.1146G>A	NP_001317678.1:p.Lys382=