Canonical Allele Identifier: CA374411587

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641738G>T (hg19) ; chr9:g.108879458G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879458G>T , CM000671.2:g.108879458G>T	GRCh38
NC_000009.11:g.111641738G>T , CM000671.1:g.111641738G>T	GRCh37
NC_000009.10:g.110681559G>T	NCBI36
NG_008788.1:g.59871C>A , LRG_251:g.59871C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3560C>A MANE Select	ENSP00000363779.5:p.Ser1187Tyr
ENST00000495759.6:c.*2170C>A	ENSP00000433514.2:n.*2170C>A
ENST00000674535.1:c.3560C>A	ENSP00000502142.1:p.Ser1187Tyr
ENST00000674704.1:n.6645C>A
ENST00000674740.1:n.443C>A
ENST00000674836.1:n.4173C>A
ENST00000674890.1:c.*795C>A	ENSP00000501870.1:n.*795C>A
ENST00000674938.1:c.3218C>A	ENSP00000502427.1:p.Ser1073Tyr
ENST00000674948.1:c.3218C>A	ENSP00000501602.1:p.Ser1073Tyr
ENST00000675052.1:c.3560C>A	ENSP00000502664.1:p.Ser1187Tyr
ENST00000675062.1:n.606C>A
ENST00000675078.1:c.3560C>A	ENSP00000501549.1:p.Ser1187Tyr
ENST00000675215.1:c.*2784C>A	ENSP00000502558.1:n.*2784C>A
ENST00000675233.1:n.5387C>A
ENST00000675321.1:c.3460+594C>A	ENSP00000502751.1:n.3460+594C>A
ENST00000675325.1:n.5517C>A
ENST00000675335.1:c.3591C>A	ENSP00000502182.1:n.3591C>A
ENST00000675400.1:n.5412C>A
ENST00000675406.1:c.3560C>A	ENSP00000501893.1:p.Ser1187Tyr
ENST00000675458.1:c.3653C>A	ENSP00000501754.1:n.3653C>A
ENST00000675507.1:n.5356C>A
ENST00000675535.1:c.*1187C>A	ENSP00000501667.1:n.*1187C>A
ENST00000675566.1:n.5418C>A
ENST00000675580.1:n.713C>A
ENST00000675602.1:n.6608C>A
ENST00000675647.1:n.4724C>A
ENST00000675711.1:c.3677C>A	ENSP00000502485.1:n.3677C>A
ENST00000675727.1:c.3560C>A	ENSP00000501722.1:p.Ser1187Tyr
ENST00000675748.1:n.5194C>A
ENST00000675765.1:c.*943C>A	ENSP00000502640.1:n.*943C>A
ENST00000675825.1:c.3602C>A	ENSP00000502632.1:p.Ser1201Tyr
ENST00000675877.1:n.5404C>A
ENST00000675893.1:c.*4629C>A	ENSP00000502001.1:n.*4629C>A
ENST00000675943.1:n.7175C>A
ENST00000675979.1:c.*2803C>A	ENSP00000502208.1:n.*2803C>A
ENST00000676044.1:c.*1220C>A	ENSP00000502378.1:n.*1220C>A
ENST00000676086.1:n.5345C>A
ENST00000676121.1:n.5388C>A
ENST00000676162.1:n.289C>A
ENST00000676237.1:c.3503C>A	ENSP00000501828.1:p.Ser1168Tyr
ENST00000676416.1:c.3260C>A	ENSP00000501660.1:p.Ser1087Tyr
ENST00000676424.1:n.5398C>A
ENST00000676429.1:n.8029C>A
ENST00000374647.9:c.3560C>A	ENSP00000363779.5:p.Ser1187Tyr
ENST00000495759.5:c.700C>A
ENST00000537196.1:c.2513C>A	ENSP00000439367.1:p.Ser838Tyr
NM_003640.3:c.3560C>A , LRG_251t1:c.3560C>A	NP_003631.2:p.Ser1187Tyr
XM_005252285.2:c.3218C>A	XP_005252342.1:p.Ser1073Tyr
XM_011519136.1:c.3602C>A	XP_011517438.1:p.Ser1201Tyr
XM_011519137.1:c.3260C>A	XP_011517439.1:p.Ser1087Tyr
NM_001318360.1:c.3218C>A	NP_001305289.1:p.Ser1073Tyr
NM_001330749.1:c.2513C>A	NP_001317678.1:p.Ser838Tyr
NM_003640.4:c.3560C>A	NP_003631.2:p.Ser1187Tyr
XM_011519136.2:c.3602C>A	XP_011517438.1:p.Ser1201Tyr
XR_929859.3:n.3949C>A
NM_003640.5:c.3560C>A MANE Select	NP_003631.2:p.Ser1187Tyr
NM_001318360.2:c.3218C>A	NP_001305289.1:p.Ser1073Tyr
NM_001330749.2:c.2513C>A	NP_001317678.1:p.Ser838Tyr