Canonical Allele Identifier: CA374423177

Gene: ELP1

Linked Data

• ClinVar Variation Id: 990648
• ClinVar RCV Id: RCV001278710
• dbSNP Id: rs1828702034
• gnomAD v3: 9-108899878-T-G
• gnomAD v4: 9-108899878-T-G
• MyVariant Identifiers: chr9:g.111662158T>G (hg19) ; chr9:g.108899878T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899878T>G , CM000671.2:g.108899878T>G	GRCh38
NC_000009.11:g.111662158T>G , CM000671.1:g.111662158T>G	GRCh37
NC_000009.10:g.110701979T>G	NCBI36
NG_008788.1:g.39451A>C , LRG_251:g.39451A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2148A>C MANE Select	ENSP00000363779.5:p.Leu716Phe
ENST00000495759.6:c.*758A>C	ENSP00000433514.2:n.*758A>C
ENST00000674535.1:c.2148A>C	ENSP00000502142.1:p.Leu716Phe
ENST00000674704.1:n.3955A>C
ENST00000674836.1:n.2453A>C
ENST00000674890.1:c.2148A>C	ENSP00000501870.1:p.Leu716Phe
ENST00000674938.1:c.1806A>C	ENSP00000502427.1:p.Leu602Phe
ENST00000674948.1:c.1806A>C	ENSP00000501602.1:p.Leu602Phe
ENST00000675052.1:c.2148A>C	ENSP00000502664.1:p.Leu716Phe
ENST00000675078.1:c.2148A>C	ENSP00000501549.1:p.Leu716Phe
ENST00000675215.1:c.*1372A>C	ENSP00000502558.1:n.*1372A>C
ENST00000675233.1:n.3975A>C
ENST00000675321.1:c.2148A>C	ENSP00000502751.1:p.Leu716Phe
ENST00000675325.1:n.3944A>C
ENST00000675335.1:c.2179A>C	ENSP00000502182.1:n.2179A>C
ENST00000675400.1:n.3821A>C
ENST00000675406.1:c.2148A>C	ENSP00000501893.1:p.Leu716Phe
ENST00000675458.1:c.2241A>C	ENSP00000501754.1:n.2241A>C
ENST00000675507.1:n.3944A>C
ENST00000675535.1:c.2148A>C	ENSP00000501667.1:p.Leu716Phe
ENST00000675566.1:n.3944A>C
ENST00000675602.1:n.5196A>C
ENST00000675647.1:n.2453A>C
ENST00000675711.1:c.2148A>C	ENSP00000502485.1:p.Leu716Phe
ENST00000675727.1:c.2148A>C	ENSP00000501722.1:p.Leu716Phe
ENST00000675748.1:n.3782A>C
ENST00000675765.1:c.2148A>C	ENSP00000502640.1:p.Leu716Phe
ENST00000675825.1:c.2148A>C	ENSP00000502632.1:p.Leu716Phe
ENST00000675877.1:n.2453A>C
ENST00000675893.1:c.*3217A>C	ENSP00000502001.1:n.*3217A>C
ENST00000675943.1:n.5763A>C
ENST00000675979.1:c.*1391A>C	ENSP00000502208.1:n.*1391A>C
ENST00000676044.1:c.2148A>C	ENSP00000502378.1:p.Leu716Phe
ENST00000676086.1:n.3933A>C
ENST00000676121.1:n.3976A>C
ENST00000676237.1:c.2049A>C	ENSP00000501828.1:p.Leu683Phe
ENST00000676416.1:c.1806A>C	ENSP00000501660.1:p.Leu602Phe
ENST00000676424.1:n.3944A>C
ENST00000676429.1:n.6617A>C
ENST00000374647.9:c.2148A>C	ENSP00000363779.5:p.Leu716Phe
ENST00000537196.1:c.1101A>C	ENSP00000439367.1:p.Leu367Phe
NM_003640.3:c.2148A>C , LRG_251t1:c.2148A>C	NP_003631.2:p.Leu716Phe
XM_005252285.2:c.1806A>C	XP_005252342.1:p.Leu602Phe
XM_011519136.1:c.2148A>C	XP_011517438.1:p.Leu716Phe
XM_011519137.1:c.1806A>C	XP_011517439.1:p.Leu602Phe
XR_929859.1:n.2464A>C
NM_001318360.1:c.1806A>C	NP_001305289.1:p.Leu602Phe
NM_001330749.1:c.1101A>C	NP_001317678.1:p.Leu367Phe
NM_003640.4:c.2148A>C	NP_003631.2:p.Leu716Phe
XM_011519136.2:c.2148A>C	XP_011517438.1:p.Leu716Phe
XR_929859.3:n.2475A>C
NM_003640.5:c.2148A>C MANE Select	NP_003631.2:p.Leu716Phe
NM_001318360.2:c.1806A>C	NP_001305289.1:p.Leu602Phe
NM_001330749.2:c.1101A>C	NP_001317678.1:p.Leu367Phe