Canonical Allele Identifier: CA5175196

Gene: ELP1

Linked Data

• ClinVar Variation Id: 364578
• ClinVar RCV Id: RCV000262689 ; RCV000755553 ; RCV003932508
• dbSNP Id: rs78135392
• ExAC: 9:111678519 A / G
• gnomAD v2: 9-111678519-A-G
• gnomAD v3: 9-108916239-A-G
• gnomAD v4: 9-108916239-A-G
• MyVariant Identifiers: chr9:g.111678519A>G (hg19) ; chr9:g.108916239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108916239A>G , CM000671.2:g.108916239A>G	GRCh38
NC_000009.11:g.111678519A>G , CM000671.1:g.111678519A>G	GRCh37
NC_000009.10:g.110718340A>G	NCBI36
NG_008788.1:g.23090T>C , LRG_251:g.23090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.923T>C MANE Select	ENSP00000363779.5:p.Leu308Pro
ENST00000495759.6:c.552+6603T>C	ENSP00000433514.2:n.552+6603T>C
ENST00000674535.1:c.923T>C	ENSP00000502142.1:p.Leu308Pro
ENST00000674704.1:n.2730T>C
ENST00000674836.1:n.1228T>C
ENST00000674890.1:c.923T>C	ENSP00000501870.1:p.Leu308Pro
ENST00000674938.1:c.581T>C	ENSP00000502427.1:p.Leu194Pro
ENST00000674948.1:c.581T>C	ENSP00000501602.1:p.Leu194Pro
ENST00000675052.1:c.923T>C	ENSP00000502664.1:p.Leu308Pro
ENST00000675078.1:c.923T>C	ENSP00000501549.1:p.Leu308Pro
ENST00000675215.1:c.*147T>C	ENSP00000502558.1:n.*147T>C
ENST00000675233.1:n.2719T>C
ENST00000675321.1:c.923T>C	ENSP00000502751.1:p.Leu308Pro
ENST00000675325.1:n.2719T>C
ENST00000675335.1:c.923T>C	ENSP00000502182.1:p.Leu308Pro
ENST00000675400.1:n.2596T>C
ENST00000675406.1:c.923T>C	ENSP00000501893.1:p.Leu308Pro
ENST00000675458.1:c.1016T>C	ENSP00000501754.1:n.1016T>C
ENST00000675507.1:n.2719T>C
ENST00000675535.1:c.923T>C	ENSP00000501667.1:p.Leu308Pro
ENST00000675566.1:n.2719T>C
ENST00000675602.1:n.3971T>C
ENST00000675647.1:n.1228T>C
ENST00000675711.1:c.923T>C	ENSP00000502485.1:p.Leu308Pro
ENST00000675727.1:c.923T>C	ENSP00000501722.1:p.Leu308Pro
ENST00000675748.1:n.2557T>C
ENST00000675765.1:c.923T>C	ENSP00000502640.1:p.Leu308Pro
ENST00000675825.1:c.923T>C	ENSP00000502632.1:p.Leu308Pro
ENST00000675877.1:n.1228T>C
ENST00000675893.1:c.*1992T>C	ENSP00000502001.1:n.*1992T>C
ENST00000675943.1:n.2719T>C
ENST00000675979.1:c.*166T>C	ENSP00000502208.1:n.*166T>C
ENST00000676044.1:c.923T>C	ENSP00000502378.1:p.Leu308Pro
ENST00000676086.1:n.2719T>C
ENST00000676121.1:n.2751T>C
ENST00000676237.1:c.824T>C	ENSP00000501828.1:p.Leu275Pro
ENST00000676416.1:c.581T>C	ENSP00000501660.1:p.Leu194Pro
ENST00000676424.1:n.2719T>C
ENST00000676429.1:n.5392T>C
ENST00000374647.9:c.923T>C	ENSP00000363779.5:p.Leu308Pro
ENST00000537196.1:c.-125T>C	ENSP00000439367.1:n.-125T>C
NM_003640.3:c.923T>C , LRG_251t1:c.923T>C	NP_003631.2:p.Leu308Pro
XM_005252285.2:c.581T>C	XP_005252342.1:p.Leu194Pro
XM_011519136.1:c.923T>C	XP_011517438.1:p.Leu308Pro
XM_011519137.1:c.581T>C	XP_011517439.1:p.Leu194Pro
XR_929859.1:n.1239T>C
NM_001318360.1:c.581T>C	NP_001305289.1:p.Leu194Pro
NM_001330749.1:c.-125T>C	NP_001317678.1:n.-125T>C
NM_003640.4:c.923T>C	NP_003631.2:p.Leu308Pro
XM_011519136.2:c.923T>C	XP_011517438.1:p.Leu308Pro
XR_929859.3:n.1250T>C
NM_003640.5:c.923T>C MANE Select	NP_003631.2:p.Leu308Pro
NM_001318360.2:c.581T>C	NP_001305289.1:p.Leu194Pro
NM_001330749.2:c.-125T>C	NP_001317678.1:n.-125T>C