Canonical Allele Identifier: CA197528430

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1604659
• ClinVar RCV Id: RCV002134747 ; RCV002486909
• dbSNP Id: rs112178985
• gnomAD v2: 9-111651629-A-G
• gnomAD v3: 9-108889349-A-G
• gnomAD v4: 9-108889349-A-G
• MyVariant Identifiers: chr9:g.111651629A>G (hg19) ; chr9:g.108889349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889349A>G , CM000671.2:g.108889349A>G	GRCh38
NC_000009.11:g.111651629A>G , CM000671.1:g.111651629A>G	GRCh37
NC_000009.10:g.110691450A>G	NCBI36
NG_008788.1:g.49980T>C , LRG_251:g.49980T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3205T>C MANE Select	ENSP00000363779.5:p.Leu1069=
ENST00000495759.6:c.*1815T>C	ENSP00000433514.2:n.*1815T>C
ENST00000674535.1:c.3205T>C	ENSP00000502142.1:p.Leu1069=
ENST00000674704.1:n.6290T>C
ENST00000674836.1:n.3818T>C
ENST00000674890.1:c.*440T>C	ENSP00000501870.1:n.*440T>C
ENST00000674938.1:c.2863T>C	ENSP00000502427.1:p.Leu955=
ENST00000674948.1:c.2863T>C	ENSP00000501602.1:p.Leu955=
ENST00000675052.1:c.3205T>C	ENSP00000502664.1:p.Leu1069=
ENST00000675078.1:c.3205T>C	ENSP00000501549.1:p.Leu1069=
ENST00000675215.1:c.*2429T>C	ENSP00000502558.1:n.*2429T>C
ENST00000675233.1:n.5032T>C
ENST00000675321.1:c.3205T>C	ENSP00000502751.1:p.Leu1069=
ENST00000675325.1:n.5162T>C
ENST00000675335.1:c.3236T>C	ENSP00000502182.1:n.3236T>C
ENST00000675400.1:n.4940T>C
ENST00000675406.1:c.3205T>C	ENSP00000501893.1:p.Leu1069=
ENST00000675458.1:c.3298T>C	ENSP00000501754.1:n.3298T>C
ENST00000675507.1:n.5001T>C
ENST00000675535.1:c.*832T>C	ENSP00000501667.1:n.*832T>C
ENST00000675566.1:n.5063T>C
ENST00000675602.1:n.6253T>C
ENST00000675647.1:n.4369T>C
ENST00000675711.1:c.3205T>C	ENSP00000502485.1:p.Leu1069=
ENST00000675727.1:c.3205T>C	ENSP00000501722.1:p.Leu1069=
ENST00000675748.1:n.4839T>C
ENST00000675765.1:c.*588T>C	ENSP00000502640.1:n.*588T>C
ENST00000675825.1:c.3205T>C	ENSP00000502632.1:p.Leu1069=
ENST00000675877.1:n.3510T>C
ENST00000675893.1:c.*4274T>C	ENSP00000502001.1:n.*4274T>C
ENST00000675943.1:n.6820T>C
ENST00000675979.1:c.*2448T>C	ENSP00000502208.1:n.*2448T>C
ENST00000676044.1:c.*865T>C	ENSP00000502378.1:n.*865T>C
ENST00000676086.1:n.4990T>C
ENST00000676121.1:n.5033T>C
ENST00000676237.1:c.3106T>C	ENSP00000501828.1:p.Leu1036=
ENST00000676416.1:c.2863T>C	ENSP00000501660.1:p.Leu955=
ENST00000676424.1:n.5001T>C
ENST00000676429.1:n.7674T>C
ENST00000374647.9:c.3205T>C	ENSP00000363779.5:p.Leu1069=
ENST00000467959.1:n.85T>C
ENST00000495759.5:c.345T>C
ENST00000537196.1:c.2158T>C	ENSP00000439367.1:p.Leu720=
NM_003640.3:c.3205T>C , LRG_251t1:c.3205T>C	NP_003631.2:p.Leu1069=
XM_005252285.2:c.2863T>C	XP_005252342.1:p.Leu955=
XM_011519136.1:c.3205T>C	XP_011517438.1:p.Leu1069=
XM_011519137.1:c.2863T>C	XP_011517439.1:p.Leu955=
NM_001318360.1:c.2863T>C	NP_001305289.1:p.Leu955=
NM_001330749.1:c.2158T>C	NP_001317678.1:p.Leu720=
NM_003640.4:c.3205T>C	NP_003631.2:p.Leu1069=
XM_011519136.2:c.3205T>C	XP_011517438.1:p.Leu1069=
XR_929859.3:n.3594T>C
NM_003640.5:c.3205T>C MANE Select	NP_003631.2:p.Leu1069=
NM_001318360.2:c.2863T>C	NP_001305289.1:p.Leu955=
NM_001330749.2:c.2158T>C	NP_001317678.1:p.Leu720=