Canonical Allele Identifier: CA374411995

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641832C>T (hg19) ; chr9:g.108879552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879552C>T , CM000671.2:g.108879552C>T	GRCh38
NC_000009.11:g.111641832C>T , CM000671.1:g.111641832C>T	GRCh37
NC_000009.10:g.110681653C>T	NCBI36
NG_008788.1:g.59777G>A , LRG_251:g.59777G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3466G>A MANE Select	ENSP00000363779.5:p.Glu1156Lys
ENST00000495759.6:c.*2076G>A	ENSP00000433514.2:n.*2076G>A
ENST00000674535.1:c.3466G>A	ENSP00000502142.1:p.Glu1156Lys
ENST00000674704.1:n.6551G>A
ENST00000674740.1:n.349G>A
ENST00000674836.1:n.4079G>A
ENST00000674890.1:c.*701G>A	ENSP00000501870.1:n.*701G>A
ENST00000674938.1:c.3124G>A	ENSP00000502427.1:p.Glu1042Lys
ENST00000674948.1:c.3124G>A	ENSP00000501602.1:p.Glu1042Lys
ENST00000675052.1:c.3466G>A	ENSP00000502664.1:p.Glu1156Lys
ENST00000675062.1:n.512G>A
ENST00000675078.1:c.3466G>A	ENSP00000501549.1:p.Glu1156Lys
ENST00000675215.1:c.*2690G>A	ENSP00000502558.1:n.*2690G>A
ENST00000675233.1:n.5293G>A
ENST00000675321.1:c.3460+500G>A	ENSP00000502751.1:n.3460+500G>A
ENST00000675325.1:n.5423G>A
ENST00000675335.1:c.3497G>A	ENSP00000502182.1:n.3497G>A
ENST00000675400.1:n.5318G>A
ENST00000675406.1:c.3466G>A	ENSP00000501893.1:p.Glu1156Lys
ENST00000675458.1:c.3559G>A	ENSP00000501754.1:n.3559G>A
ENST00000675507.1:n.5262G>A
ENST00000675535.1:c.*1093G>A	ENSP00000501667.1:n.*1093G>A
ENST00000675566.1:n.5324G>A
ENST00000675580.1:n.619G>A
ENST00000675602.1:n.6514G>A
ENST00000675647.1:n.4630G>A
ENST00000675711.1:c.3583G>A	ENSP00000502485.1:n.3583G>A
ENST00000675727.1:c.3466G>A	ENSP00000501722.1:p.Glu1156Lys
ENST00000675748.1:n.5100G>A
ENST00000675765.1:c.*849G>A	ENSP00000502640.1:n.*849G>A
ENST00000675825.1:c.3508G>A	ENSP00000502632.1:p.Glu1170Lys
ENST00000675877.1:n.5310G>A
ENST00000675893.1:c.*4535G>A	ENSP00000502001.1:n.*4535G>A
ENST00000675943.1:n.7081G>A
ENST00000675979.1:c.*2709G>A	ENSP00000502208.1:n.*2709G>A
ENST00000676044.1:c.*1126G>A	ENSP00000502378.1:n.*1126G>A
ENST00000676086.1:n.5251G>A
ENST00000676121.1:n.5294G>A
ENST00000676162.1:n.195G>A
ENST00000676237.1:c.3409G>A	ENSP00000501828.1:p.Glu1137Lys
ENST00000676416.1:c.3166G>A	ENSP00000501660.1:p.Glu1056Lys
ENST00000676424.1:n.5304G>A
ENST00000676429.1:n.7935G>A
ENST00000374647.9:c.3466G>A	ENSP00000363779.5:p.Glu1156Lys
ENST00000467959.1:n.346G>A
ENST00000495759.5:c.606G>A
ENST00000537196.1:c.2419G>A	ENSP00000439367.1:p.Glu807Lys
NM_003640.3:c.3466G>A , LRG_251t1:c.3466G>A	NP_003631.2:p.Glu1156Lys
XM_005252285.2:c.3124G>A	XP_005252342.1:p.Glu1042Lys
XM_011519136.1:c.3508G>A	XP_011517438.1:p.Glu1170Lys
XM_011519137.1:c.3166G>A	XP_011517439.1:p.Glu1056Lys
NM_001318360.1:c.3124G>A	NP_001305289.1:p.Glu1042Lys
NM_001330749.1:c.2419G>A	NP_001317678.1:p.Glu807Lys
NM_003640.4:c.3466G>A	NP_003631.2:p.Glu1156Lys
XM_011519136.2:c.3508G>A	XP_011517438.1:p.Glu1170Lys
XR_929859.3:n.3855G>A
NM_003640.5:c.3466G>A MANE Select	NP_003631.2:p.Glu1156Lys
NM_001318360.2:c.3124G>A	NP_001305289.1:p.Glu1042Lys
NM_001330749.2:c.2419G>A	NP_001317678.1:p.Glu807Lys