Canonical Allele Identifier: CA466672549

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1664615
• ClinVar RCV Id: RCV002181794
• dbSNP Id: rs781284578
• MyVariant Identifiers: chr9:g.111641737G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879457G>C , CM000671.2:g.108879457G>C	GRCh38
NC_000009.11:g.111641737G>C , CM000671.1:g.111641737G>C	GRCh37
NC_000009.10:g.110681558G>C	NCBI36
NG_008788.1:g.59872C>G , LRG_251:g.59872C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3561C>G MANE Select	ENSP00000363779.5:p.Ser1187=
ENST00000495759.6:c.*2171C>G	ENSP00000433514.2:n.*2171C>G
ENST00000674535.1:c.3561C>G	ENSP00000502142.1:p.Ser1187=
ENST00000674704.1:n.6646C>G
ENST00000674740.1:n.444C>G
ENST00000674836.1:n.4174C>G
ENST00000674890.1:c.*796C>G	ENSP00000501870.1:n.*796C>G
ENST00000674938.1:c.3219C>G	ENSP00000502427.1:p.Ser1073=
ENST00000674948.1:c.3219C>G	ENSP00000501602.1:p.Ser1073=
ENST00000675052.1:c.3561C>G	ENSP00000502664.1:p.Ser1187=
ENST00000675062.1:n.607C>G
ENST00000675078.1:c.3561C>G	ENSP00000501549.1:p.Ser1187=
ENST00000675215.1:c.*2785C>G	ENSP00000502558.1:n.*2785C>G
ENST00000675233.1:n.5388C>G
ENST00000675321.1:c.3460+595C>G	ENSP00000502751.1:n.3460+595C>G
ENST00000675325.1:n.5518C>G
ENST00000675335.1:c.3592C>G	ENSP00000502182.1:n.3592C>G
ENST00000675400.1:n.5413C>G
ENST00000675406.1:c.3561C>G	ENSP00000501893.1:p.Ser1187=
ENST00000675458.1:c.3654C>G	ENSP00000501754.1:n.3654C>G
ENST00000675507.1:n.5357C>G
ENST00000675535.1:c.*1188C>G	ENSP00000501667.1:n.*1188C>G
ENST00000675566.1:n.5419C>G
ENST00000675580.1:n.714C>G
ENST00000675602.1:n.6609C>G
ENST00000675647.1:n.4725C>G
ENST00000675711.1:c.3678C>G	ENSP00000502485.1:n.3678C>G
ENST00000675727.1:c.3561C>G	ENSP00000501722.1:p.Ser1187=
ENST00000675748.1:n.5195C>G
ENST00000675765.1:c.*944C>G	ENSP00000502640.1:n.*944C>G
ENST00000675825.1:c.3603C>G	ENSP00000502632.1:p.Ser1201=
ENST00000675877.1:n.5405C>G
ENST00000675893.1:c.*4630C>G	ENSP00000502001.1:n.*4630C>G
ENST00000675943.1:n.7176C>G
ENST00000675979.1:c.*2804C>G	ENSP00000502208.1:n.*2804C>G
ENST00000676044.1:c.*1221C>G	ENSP00000502378.1:n.*1221C>G
ENST00000676086.1:n.5346C>G
ENST00000676121.1:n.5389C>G
ENST00000676162.1:n.290C>G
ENST00000676237.1:c.3504C>G	ENSP00000501828.1:p.Ser1168=
ENST00000676416.1:c.3261C>G	ENSP00000501660.1:p.Ser1087=
ENST00000676424.1:n.5399C>G
ENST00000676429.1:n.8030C>G
ENST00000374647.9:c.3561C>G	ENSP00000363779.5:p.Ser1187=
ENST00000495759.5:c.701C>G
ENST00000537196.1:c.2514C>G	ENSP00000439367.1:p.Ser838=
NM_003640.3:c.3561C>G , LRG_251t1:c.3561C>G	NP_003631.2:p.Ser1187=
XM_005252285.2:c.3219C>G	XP_005252342.1:p.Ser1073=
XM_011519136.1:c.3603C>G	XP_011517438.1:p.Ser1201=
XM_011519137.1:c.3261C>G	XP_011517439.1:p.Ser1087=
NM_001318360.1:c.3219C>G	NP_001305289.1:p.Ser1073=
NM_001330749.1:c.2514C>G	NP_001317678.1:p.Ser838=
NM_003640.4:c.3561C>G	NP_003631.2:p.Ser1187=
XM_011519136.2:c.3603C>G	XP_011517438.1:p.Ser1201=
XR_929859.3:n.3950C>G
NM_003640.5:c.3561C>G MANE Select	NP_003631.2:p.Ser1187=
NM_001318360.2:c.3219C>G	NP_001305289.1:p.Ser1073=
NM_001330749.2:c.2514C>G	NP_001317678.1:p.Ser838=