Canonical Allele Identifier: CA197520429

Gene: ELP1

Linked Data

• dbSNP Id: rs763943577
• gnomAD v3: 9-108879548-A-T
• gnomAD v4: 9-108879548-A-T
• MyVariant Identifiers: chr9:g.111641828A>T (hg19) ; chr9:g.108879548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879548A>T , CM000671.2:g.108879548A>T	GRCh38
NC_000009.11:g.111641828A>T , CM000671.1:g.111641828A>T	GRCh37
NC_000009.10:g.110681649A>T	NCBI36
NG_008788.1:g.59781T>A , LRG_251:g.59781T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3470T>A MANE Select	ENSP00000363779.5:p.Val1157Glu
ENST00000495759.6:c.*2080T>A	ENSP00000433514.2:n.*2080T>A
ENST00000674535.1:c.3470T>A	ENSP00000502142.1:p.Val1157Glu
ENST00000674704.1:n.6555T>A
ENST00000674740.1:n.353T>A
ENST00000674836.1:n.4083T>A
ENST00000674890.1:c.*705T>A	ENSP00000501870.1:n.*705T>A
ENST00000674938.1:c.3128T>A	ENSP00000502427.1:p.Val1043Glu
ENST00000674948.1:c.3128T>A	ENSP00000501602.1:p.Val1043Glu
ENST00000675052.1:c.3470T>A	ENSP00000502664.1:p.Val1157Glu
ENST00000675062.1:n.516T>A
ENST00000675078.1:c.3470T>A	ENSP00000501549.1:p.Val1157Glu
ENST00000675215.1:c.*2694T>A	ENSP00000502558.1:n.*2694T>A
ENST00000675233.1:n.5297T>A
ENST00000675321.1:c.3460+504T>A	ENSP00000502751.1:n.3460+504T>A
ENST00000675325.1:n.5427T>A
ENST00000675335.1:c.3501T>A	ENSP00000502182.1:n.3501T>A
ENST00000675400.1:n.5322T>A
ENST00000675406.1:c.3470T>A	ENSP00000501893.1:p.Val1157Glu
ENST00000675458.1:c.3563T>A	ENSP00000501754.1:n.3563T>A
ENST00000675507.1:n.5266T>A
ENST00000675535.1:c.*1097T>A	ENSP00000501667.1:n.*1097T>A
ENST00000675566.1:n.5328T>A
ENST00000675580.1:n.623T>A
ENST00000675602.1:n.6518T>A
ENST00000675647.1:n.4634T>A
ENST00000675711.1:c.3587T>A	ENSP00000502485.1:n.3587T>A
ENST00000675727.1:c.3470T>A	ENSP00000501722.1:p.Val1157Glu
ENST00000675748.1:n.5104T>A
ENST00000675765.1:c.*853T>A	ENSP00000502640.1:n.*853T>A
ENST00000675825.1:c.3512T>A	ENSP00000502632.1:p.Val1171Glu
ENST00000675877.1:n.5314T>A
ENST00000675893.1:c.*4539T>A	ENSP00000502001.1:n.*4539T>A
ENST00000675943.1:n.7085T>A
ENST00000675979.1:c.*2713T>A	ENSP00000502208.1:n.*2713T>A
ENST00000676044.1:c.*1130T>A	ENSP00000502378.1:n.*1130T>A
ENST00000676086.1:n.5255T>A
ENST00000676121.1:n.5298T>A
ENST00000676162.1:n.199T>A
ENST00000676237.1:c.3413T>A	ENSP00000501828.1:p.Val1138Glu
ENST00000676416.1:c.3170T>A	ENSP00000501660.1:p.Val1057Glu
ENST00000676424.1:n.5308T>A
ENST00000676429.1:n.7939T>A
ENST00000374647.9:c.3470T>A	ENSP00000363779.5:p.Val1157Glu
ENST00000467959.1:n.350T>A
ENST00000495759.5:c.610T>A
ENST00000537196.1:c.2423T>A	ENSP00000439367.1:p.Val808Glu
NM_003640.3:c.3470T>A , LRG_251t1:c.3470T>A	NP_003631.2:p.Val1157Glu
XM_005252285.2:c.3128T>A	XP_005252342.1:p.Val1043Glu
XM_011519136.1:c.3512T>A	XP_011517438.1:p.Val1171Glu
XM_011519137.1:c.3170T>A	XP_011517439.1:p.Val1057Glu
NM_001318360.1:c.3128T>A	NP_001305289.1:p.Val1043Glu
NM_001330749.1:c.2423T>A	NP_001317678.1:p.Val808Glu
NM_003640.4:c.3470T>A	NP_003631.2:p.Val1157Glu
XM_011519136.2:c.3512T>A	XP_011517438.1:p.Val1171Glu
XR_929859.3:n.3859T>A
NM_003640.5:c.3470T>A MANE Select	NP_003631.2:p.Val1157Glu
NM_001318360.2:c.3128T>A	NP_001305289.1:p.Val1043Glu
NM_001330749.2:c.2423T>A	NP_001317678.1:p.Val808Glu